[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2594752 [NCBI, ExPASy, EBI, Israel, Japan]
Lux S.E.,
John K.M.,
Kopito R.R.,
Lodish H.F.;
"Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1).";
Proc. Natl. Acad. Sci. U.S.A. 86:9089-9093(1989).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Blood;
PubMed=3223947 [NCBI, ExPASy, EBI, Israel, Japan]
Tanner M.J.A.,
Martin P.G.,
High S.;
"The complete amino acid sequence of the human erythrocyte membrane anion-transport protein deduced from the cDNA sequence.";
Biochem. J. 256:703-712(1988).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ALA-38; GLU-56; LYS-508 AND ILE-862.
SeattleSNPs program for genomic applications;
Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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PROTEIN SEQUENCE OF 1-199; 220-292 AND 347-370.
DOI=10.1016/0167-4838(89)90116-7; PubMed=2790053 [NCBI, ExPASy, EBI, Israel, Japan]
Yannoukakos D.,
Vasseur C.,
Blouquit Y.,
Bursaux E.,
Wajcman H.;
"Primary structure of the cytoplasmic domain of human erythrocyte protein band 3. Comparison with its sequence in the mouse.";
Biochim. Biophys. Acta 998:43-49(1989).
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[6]
|
PROTEIN SEQUENCE OF 1-201.
PubMed=6345535 [NCBI, ExPASy, EBI, Israel, Japan]
Kaul R.K.,
Murthy S.N.P.,
Reddy A.G.,
Steck T.L.,
Kohler H.;
"Amino acid sequence of the N alpha-terminal 201 residues of human erythrocyte membrane band 3.";
J. Biol. Chem. 258:7981-7990(1983).
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[7]
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PROTEIN SEQUENCE OF 1-3.
PubMed=701248 [NCBI, ExPASy, EBI, Israel, Japan]
Drickamer L.K.;
"Orientation of the band 3 polypeptide from human erythrocyte membranes. Identification of NH2-terminal sequence and site of carbohydrate attachment.";
J. Biol. Chem. 253:7242-7248(1978).
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[8]
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NUCLEOTIDE SEQUENCE [MRNA] OF 66-180.
PubMed=7506871 [NCBI, ExPASy, EBI, Israel, Japan]
Kollert-Jons A.,
Wagner S.,
Hubner S.,
Appelhans H.,
Drenckhahn D.;
"Anion exchanger 1 in human kidney and oncocytoma differs from erythroid AE1 in its NH2 terminus.";
Am. J. Physiol. 265:F813-F821(1993).
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[9]
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PROTEIN SEQUENCE OF 559-630.
PubMed=6615451 [NCBI, ExPASy, EBI, Israel, Japan]
Brock C.J.,
Tanner M.J.A.,
Kempf C.;
"The human erythrocyte anion-transport protein. Partial amino acid sequence, conformation and a possible molecular mechanism for anion exchange.";
Biochem. J. 213:577-586(1983).
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[10]
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PROTEIN SEQUENCE OF 665-688, AND ROLE OF GLU-681.
PubMed=1352774 [NCBI, ExPASy, EBI, Israel, Japan]
Jennings M.L.,
Smith J.S.;
"Anion-proton cotransport through the human red blood cell band 3 protein. Role of glutamate 681.";
J. Biol. Chem. 267:13964-13971(1992).
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[11]
|
PROTEIN SEQUENCE OF 834-911.
PubMed=3372523 [NCBI, ExPASy, EBI, Israel, Japan]
Kawano Y.,
Okubo K.,
Tokunaga F.,
Miyata T.,
Iwanaga S.,
Hamasaki N.;
"Localization of the pyridoxal phosphate binding site at the COOH-terminal region of erythrocyte band 3 protein.";
J. Biol. Chem. 263:8232-8238(1988).
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[12]
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PHOSPHORYLATION AT TYR-8; TYR-21 AND TYR-46.
DOI=10.1016/0005-2736(91)90291-F; PubMed=1998697 [NCBI, ExPASy, EBI, Israel, Japan]
Yannoukakos D.,
Vasseur C.,
Piau J.-P.,
Wajcman H.,
Bursaux E.;
"Phosphorylation sites in human erythrocyte band 3 protein.";
Biochim. Biophys. Acta 1061:253-266(1991).
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[13]
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PALMITOYLATION AT CYS-843.
PubMed=1885574 [NCBI, ExPASy, EBI, Israel, Japan]
Okubo K.,
Hamasaki N.,
Hara K.,
Kageura M.;
"Palmitoylation of cysteine 69 from the COOH-terminal of band 3 protein in the human erythrocyte membrane. Acylation occurs in the middle of the consensus sequence of F--I-IICLAVL found in band 3 protein and G2 protein of Rift Valley fever virus.";
J. Biol. Chem. 266:16420-16424(1991).
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[14]
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PHOSPHORYLATION AT TYR-8; TYR-21; TYR-359 AND TYR-904.
PubMed=10942405 [NCBI, ExPASy, EBI, Israel, Japan]
Brunati A.M.,
Bordin L.,
Clari G.,
James P.,
Quadroni M.,
Baritono E.,
Pinna L.A.,
Donella-Deana A.;
"Sequential phosphorylation of protein band 3 by Syk and Lyn tyrosine kinases in intact human erythrocytes: identification of primary and secondary phosphorylation sites.";
Blood 96:1550-1557(2000).
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[15]
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STRUCTURE BY ELECTRON CRYO-MICROSCOPY.
PubMed=8508760 [NCBI, ExPASy, EBI, Israel, Japan]
Wang D.N.,
Kuehlbrandt W.,
Sarabia V.E.,
Reithmeier R.A.F.;
"Two-dimensional structure of the membrane domain of human band 3, the anion transport protein of the erythrocyte membrane.";
EMBO J. 12:2233-2239(1993).
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[16]
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STRUCTURE BY ELECTRON CRYO-MICROSCOPY.
PubMed=8045253 [NCBI, ExPASy, EBI, Israel, Japan]
Wang D.N.,
Sarabia V.E.,
Reithmeier R.A.F.,
Kuehlbrandt W.;
"Three-dimensional map of the dimeric membrane domain of the human erythrocyte anion exchanger, Band 3.";
EMBO J. 13:3230-3235(1994).
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[17]
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STRUCTURE BY NMR OF 405-424 AND 436-456.
PubMed=8168533 [NCBI, ExPASy, EBI, Israel, Japan]
Gargaro A.R.,
Bloomberg G.B.,
Dempsey C.E.,
Murray M.,
Tanner M.J.A.;
"The solution structures of the first and second transmembrane-spanning segments of band 3.";
Eur. J. Biochem. 221:445-454(1994).
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[18]
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STRUCTURE BY NMR OF 1-16.
DOI=10.1021/bi00051a005; PubMed=8527430 [NCBI, ExPASy, EBI, Israel, Japan]
Schneider M.L.,
Post C.B.;
"Solution structure of a band 3 peptide inhibitor bound to aldolase: a proposed mechanism for regulating binding by tyrosine phosphorylation.";
Biochemistry 34:16574-16584(1995).
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[19]
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STRUCTURE BY NMR OF 1-16.
DOI=10.1021/bi971445b; PubMed=9454576 [NCBI, ExPASy, EBI, Israel, Japan]
Eisenmesser E.Z.,
Post C.B.;
"Insights into tyrosine phosphorylation control of protein-protein association from the NMR structure of a band 3 peptide inhibitor bound to glyceraldehyde-3-phosphate dehydrogenase.";
Biochemistry 37:867-877(1998).
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[20]
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STRUCTURE BY NMR OF 389-430.
PubMed=9765907 [NCBI, ExPASy, EBI, Israel, Japan]
Chambers E.J.,
Askin D.,
Bloomberg G.B.,
Ring S.M.,
Tanner M.J.;
"Studies on the structure of a transmembrane region and a cytoplasmic loop of the human red cell anion exchanger.";
Biochem. Soc. Trans. 26:516-520(1998).
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[21]
|
STRUCTURE BY NMR OF 803-835.
DOI=10.1021/bi973158d; PubMed=9709005 [NCBI, ExPASy, EBI, Israel, Japan]
Askin D.,
Bloomberg G.B.,
Chambers E.J.,
Tanner M.J.;
"NMR solution structure of a cytoplasmic surface loop of the human red cell anion transporter, band 3.";
Biochemistry 37:11670-11678(1998).
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[22]
|
VARIANT MEMPHIS GLU-56.
PubMed=1678289 [NCBI, ExPASy, EBI, Israel, Japan]
Yannoukakos D.,
Vasseur C.,
Driancourt C.,
Blouquit Y.,
Delauney J.,
Wajcman H.,
Bursaux E.;
"Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (Lys 56-->Glu) by protein chemistry methods.";
Blood 78:1117-1120(1991).
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[23]
|
VARIANT EL4 400-ALA--ALA-408 DEL, AND VARIANT MEMPHIS GLU-56.
PubMed=1722314 [NCBI, ExPASy, EBI, Israel, Japan]
Jarolim P.,
Palek J.,
Amato D.,
Hassan K.,
Sapak P.,
Nurse G.T.,
Rubin H.L.,
Zhai S.,
Sahr K.E.,
Liu S.-C.;
"Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.";
Proc. Natl. Acad. Sci. U.S.A. 88:11022-11026(1991).
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[24]
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VARIANT HS ARG-327.
PubMed=1378323 [NCBI, ExPASy, EBI, Israel, Japan]
Jarolim P.,
Palek J.,
Rubin H.L.,
Prchal J.T.,
Korsgren C.,
Cohen C.M.;
"Band 3 Tuscaloosa: Pro-327-->Arg substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.";
Blood 80:523-529(1992).
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[25]
|
VARIANT EL4 400-ALA--ALA-408 DEL.
DOI=10.1016/0022-2836(92)90254-H; PubMed=1538405 [NCBI, ExPASy, EBI, Israel, Japan]
Schofield A.E.,
Tanner M.J.A.,
Pinder J.C.,
Clough B.,
Bayley P.M.,
Nash G.B.,
Dluzewski A.R.,
Reardon D.M.,
Cox T.M.,
Wilson R.J.M.,
Gratzer W.B.;
"Basis of unique red cell membrane properties in hereditary ovalocytosis.";
J. Mol. Biol. 223:949-958(1992).
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[26]
|
VARIANT HS LEU-868.
PubMed=8343110 [NCBI, ExPASy, EBI, Israel, Japan]
Bruce L.J.,
Kay M.M.,
Lawrence C.,
Tanner M.J.;
"Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868-->Leu in the membrane domain of band 3.";
Biochem. J. 293:317-320(1993).
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[27]
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VARIANT MONTEFIORE LYS-40.
PubMed=8471774 [NCBI, ExPASy, EBI, Israel, Japan]
Rybicki A.C.,
Qiu J.J.H.,
Musto S.,
Rosen N.L.,
Nagel R.L.,
Schwartz R.S.;
"Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40 glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore).";
Blood 81:2155-2165(1993).
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[28]
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VARIANT BLOOD GROUP DI(A)/MEMPHIS-II.
PubMed=8206915 [NCBI, ExPASy, EBI, Israel, Japan]
Bruce L.J.,
Anstee D.J.,
Spring F.A.,
Tanner M.J.;
"Band 3 Memphis variant II. Altered stilbene disulfonate binding and the Diego (Dia) blood group antigen are associated with the human erythrocyte band 3 mutation Pro-854-->Leu.";
J. Biol. Chem. 269:16155-16158(1994).
|
[29]
|
VARIANT BLOOD GROUP WR(A).
PubMed=7812009 [NCBI, ExPASy, EBI, Israel, Japan]
Bruce L.J.,
Ring S.M.,
Anstee D.J.,
Reid M.E.,
Wilkinson S.,
Tanner M.J.;
"Changes in the blood group Wright antigens are associated with a mutation at amino acid 658 in human erythrocyte band 3: a site of interaction between band 3 and glycophorin A under certain conditions.";
Blood 85:541-547(1995).
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[30]
|
VARIANTS HS GLN-760; TRP-760; CYS-808 AND TRP-870.
PubMed=7530501 [NCBI, ExPASy, EBI, Israel, Japan]
Jarolim P.,
Rubin H.L.,
Brabec V.,
Chrobak L.,
Zolotarev A.S.,
Alper S.L.,
Brugnara C.,
Wichterle H.,
Palek J.;
"Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.";
Blood 85:634-640(1995).
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[31]
|
VARIANT HS ASP-771.
PubMed=8547122 [NCBI, ExPASy, EBI, Israel, Japan]
Maillet P.,
Vallier A.,
Reinhart W.H.,
Wyss E.J.,
Ott P.,
Texier P.,
Baklouti F.,
Tanner M.J.,
Delaunay J.,
Alloisio N.;
"Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.";
Br. J. Haematol. 91:804-810(1995).
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[32]
|
VARIANTS HS ASP-285; GLU-455; PRO-707; PRO-834 AND MET-837.
PubMed=8943874 [NCBI, ExPASy, EBI, Israel, Japan]
Jarolim P.,
Murray J.L.,
Rubin H.L.,
Taylor W.M.,
Prchal J.T.,
Ballas S.K.,
Snyder L.M.,
Chrobak L.,
Melrose W.D.,
Brabec V.,
Palek J.;
"Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.";
Blood 88:4366-4374(1996).
|
[33]
|
VARIANTS HS LYS-40; CYS-518 AND MET-663 DEL.
DOI=10.1038/ng0696-214; PubMed=8640229 [NCBI, ExPASy, EBI, Israel, Japan]
Eber S.W.,
Gonzalez J.M.,
Lux M.L.,
Scarpa A.L.,
Tse W.T.,
Dornwell M.,
Herbers J.,
Kugler W.,
Oezcan R.,
Pekrun A.,
Gallagher P.G.,
Schroeter W.,
Forget B.G.,
Lux S.E.;
"Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.";
Nat. Genet. 13:214-218(1996).
|
[34]
|
VARIANTS HS SER-147 AND MET-488.
PubMed=9207478 [NCBI, ExPASy, EBI, Israel, Japan]
Alloisio N.,
Texier P.,
Vallier A.,
Ribeiro M.L.,
Morle L.,
Bozon M.,
Bursaux E.,
Maillet P.,
Goncalves P.,
Tanner M.J.,
Tamagnini G.,
Delaunay J.;
"Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.";
Blood 90:414-420(1997).
|
[35]
|
VARIANT HS ASN-783, AND VARIANTS ALA-38 AND MET-73.
DOI=10.1046/j.1365-2141.1997.8732504.x; PubMed=9012689 [NCBI, ExPASy, EBI, Israel, Japan]
Miraglia del Giudice E.,
Vallier A.,
Maillet P.,
Perrotta S.,
Cutillo S.,
Iolascon A.,
Tanner M.J.,
Delaunay J.,
Alloisio N.;
"Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.";
Br. J. Haematol. 96:70-76(1997).
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[36]
|
VARIANTS HS CYS-490 AND MET-837.
DOI=10.1046/j.1365-2141.1997.1893005.x; PubMed=9233560 [NCBI, ExPASy, EBI, Israel, Japan]
Dhermy D.,
Galand C.,
Bournier O.,
Boulanger L.,
Cynober T.,
Schismanoff P.O.,
Bursaux E.,
Tchernia G.,
Boivin P.,
Garbarz M.;
"Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.";
Br. J. Haematol. 98:32-40(1997).
|
[37]
|
VARIANTS DRTA CYS-589; HIS-589 AND PHE-613.
PubMed=9312167 [NCBI, ExPASy, EBI, Israel, Japan]
Bruce L.J.,
Cope D.L.,
Jones G.K.,
Schofield A.E.,
Burley M.,
Povey S.,
Unwin R.J.,
Wrong O.,
Tanner M.J.;
"Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.";
J. Clin. Invest. 100:1693-1707(1997).
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[38]
|
VARIANTS BLOOD GROUPS RB(A); TR(A) AND WD(A).
DOI=10.1046/j.1537-2995.1997.37697335155.x; PubMed=9191821 [NCBI, ExPASy, EBI, Israel, Japan]
Jarolim P.,
Murray J.L.,
Rubin H.L.,
Smart E.,
Moulds J.M.;
"Blood group antigens Rb(a), Tr(a), and Wd(a) are located in the third ectoplasmic loop of erythroid band 3.";
Transfusion 37:607-615(1997).
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[39]
|
VARIANT HS ALA-837.
DOI=10.1159/000040904; PubMed=9973643 [NCBI, ExPASy, EBI, Israel, Japan]
Iwase S.,
Ideguchi H.,
Takao M.,
Horiguchi-Yamada J.,
Iwasaki M.,
Takahara S.,
Sekikawa T.,
Mochizuki S.,
Yamada H.;
"Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis.";
Acta Haematol. 100:200-203(1998).
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[40]
|
VARIANTS BLOOD GROUPS BOW; BP(A); ELO; HG(A); MO(A); VG(A) AND WU.
PubMed=9845551 [NCBI, ExPASy, EBI, Israel, Japan]
Jarolim P.,
Rubin H.L.,
Zakova D.,
Storry J.,
Reid M.E.;
"Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein.";
Blood 92:4836-4843(1998).
|
[41]
|
VARIANT DRTA ASP-701.
PubMed=9854053 [NCBI, ExPASy, EBI, Israel, Japan]
Tanphaichitr V.S.,
Sumboonnanonda A.,
Ideguchi H.,
Shayakul C.,
Brugnara C.,
Takao M.,
Veerakul G.,
Alper S.L.;
"Novel AE1 mutations in recessive distal renal tubular acidosis: loss-of-function is rescued by glycophorin A.";
J. Clin. Invest. 102:2173-2179(1998).
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[42]
|
VARIANTS DRTA HIS-589 AND SER-589.
DOI=10.1073/pnas.95.11.6337; PubMed=9600966 [NCBI, ExPASy, EBI, Israel, Japan]
Karet F.E.,
Gainza F.J.,
Gyory A.Z.,
Unwin R.J.,
Wrong O.,
Tanner M.J.A.,
Nayir A.,
Alpay H.,
Santos F.,
Hulton S.A.,
Bakkaloglu A.,
Ozen S.,
Cunningham M.J.,
di Pietro A.,
Walker W.G.,
Lifton R.P.;
"Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.";
Proc. Natl. Acad. Sci. U.S.A. 95:6337-6342(1998).
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[43]
|
VARIANTS BLOOD GROUP WU.
DOI=10.1046/j.1537-2995.1998.38898375513.x; PubMed=9709782 [NCBI, ExPASy, EBI, Israel, Japan]
Zelinski T.,
McManus K.,
Punter F.,
Moulds M.,
Coghlan G.;
"A Gly565-->Ala substitution in human erythroid band 3 accounts for the Wu blood group polymorphism.";
Transfusion 38:745-748(1998).
|
[44]
|
VARIANTS DRTA ASP-701; VAL-850 DEL AND ASP-858.
DOI=10.1042/0264-6021:3500041; PubMed=10926824 [NCBI, ExPASy, EBI, Israel, Japan]
Bruce L.J.,
Wrong O.,
Toye A.M.,
Young M.T.,
Ogle G.,
Ismail Z.,
Sinha A.K.,
McMaster P.,
Hwaihwanje I.,
Nash G.B.,
Hart S.,
Lavu E.,
Palmer R.,
Othman A.,
Unwin R.J.,
Tanner M.J.A.;
"Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.";
Biochem. J. 350:41-51(2000).
|
[45]
|
VARIANT HS MET-488.
PubMed=10942416 [NCBI, ExPASy, EBI, Israel, Japan]
Ribeiro M.L.,
Alloisio N.,
Almeida H.,
Gomes C.,
Texier P.,
Lemos C.,
Mimoso G.,
Morle L.,
Bey-Cabet F.,
Rudigoz R.-C.,
Delaunay J.,
Tamagnini G.;
"Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.";
Blood 96:1602-1604(2000).
|
[46]
|
CHARACTERIZATION OF VARIANTS PRO-707; GLN-760; TRP-760; CYS-808; PRO-834; MET-837 AND TRP-870.
PubMed=11208088 [NCBI, ExPASy, EBI, Israel, Japan]
Quilty J.A.,
Reithmeier R.A.;
"Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.";
Traffic 1:987-998(2000).
|
[47]
|
VARIANT BLOOD GROUP FR(A+) LYS-480.
DOI=10.1046/j.1537-2995.2000.40101246.x; PubMed=11061863 [NCBI, ExPASy, EBI, Israel, Japan]
McManus K.,
Lupe K.,
Coghlan G.,
Zelinski T.;
"An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism.";
Transfusion 40:1246-1249(2000).
|
[48]
|
VARIANTS BLOOD GROUP SW(A+) GLN-646 AND TRP-646.
DOI=10.1159/000056733; PubMed=11155072 [NCBI, ExPASy, EBI, Israel, Japan]
Zelinski T.,
Rusnak A.,
McManus K.,
Coghlan G.;
"Distinctive Swann blood group genotypes: molecular investigations.";
Vox Sang. 79:215-218(2000).
|
[49]
|
VARIANTS HS LYS-90 AND TRP-870.
DOI=10.1046/j.1365-2141.2001.02800.x; PubMed=11380459 [NCBI, ExPASy, EBI, Israel, Japan]
Bracher N.A.,
Lyons C.A.,
Wessels G.,
Mansvelt E.,
Coetzer T.L.;
"Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III.";
Br. J. Haematol. 113:689-693(2001).
|
[50]
|
VARIANTS DRTA PRO-602 AND PRO-773.
DOI=10.1053/j.ajkd.2004.03.033; PubMed=15211439 [NCBI, ExPASy, EBI, Israel, Japan]
Sritippayawan S.,
Sumboonnanonda A.,
Vasuvattakul S.,
Keskanokwong T.,
Sawasdee N.,
Paemanee A.,
Thuwajit P.,
Wilairat P.,
Nimmannit S.,
Malasit P.,
Yenchitsomanus P.T.;
"Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.";
Am. J. Kidney Dis. 44:64-70(2004).
|
[51]
|
VARIANTS HS PRO-687; TYR-705; PRO-731; ARG-734 AND GLN-760.
DOI=10.1038/ng1656; PubMed=16227998 [NCBI, ExPASy, EBI, Israel, Japan]
Bruce L.J.,
Robinson H.C.,
Guizouarn H.,
Borgese F.,
Harrison P.,
King M.-J.,
Goede J.S.,
Coles S.E.,
Gore D.M.,
Lutz H.U.,
Ficarella R.,
Layton D.M.,
Iolascon A.,
Ellory J.C.,
Stewart G.W.;
"Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.";
Nat. Genet. 37:1258-1263(2005).
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