[1]
|
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=6300847 [NCBI, ExPASy, EBI, Israel, Japan]
Jolly D.J.,
Okayama H.,
Berg P.,
Esty A.C.,
Filpula D.,
Bohlen P.,
Johnson G.G.,
Shively J.E.,
Hunkapillar T.,
Friedmann T.;
"Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.";
Proc. Natl. Acad. Sci. U.S.A. 80:477-481(1983).
|
[2]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1016/0888-7543(90)90493-E; PubMed=2341149 [NCBI, ExPASy, EBI, Israel, Japan]
Edwards A.,
Voss H.,
Rice P.,
Civitello A.,
Stegemann J.,
Schwager C.,
Zimmermann J.,
Erfle H.,
Caskey C.T.,
Ansorge W.;
"Automated DNA sequencing of the human HPRT locus.";
Genomics 6:593-608(1990).
|
[3]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N.,
Chen X.,
Rolfs A.,
Halleck A.,
Hines L.,
Eisenstein S.,
Koundinya M.,
Raphael J.,
Moreira D.,
Kelley T.,
LaBaer J.,
Lin Y.,
Phelan M.,
Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
|
[4]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Livingston R.J.,
Rieder M.J.,
Chung M.-W.,
Ritchie T.K.,
Olson A.N.,
Nguyen C.P.,
Nguyen D.A.,
Poel C.L.,
Chambers S.W.,
Schackwitz W.S.,
Sherwood J.K.,
Sherwood A.M.,
Leithauser B.J.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
|
[5]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T.,
Grafham D.V.,
Coffey A.J.,
Scherer S.,
McLay K.,
Muzny D.,
Platzer M.,
Howell G.R.,
Burrows C.,
Bird C.P.,
Frankish A.,
Lovell F.L.,
Howe K.L.,
Ashurst J.L.,
Fulton R.S.,
Sudbrak R.,
Wen G.,
Jones M.C.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
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[6]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J.,
Istrail S.,
Sutton G.G.,
Florea L.,
Halpern A.L.,
Mobarry C.M.,
Lippert R.,
Walenz B.,
Shatkay H.,
Dew I.,
Miller J.R.,
Flanigan M.J.,
Edwards N.J.,
Bolanos R.,
Fasulo D.,
Halldorsson B.V.,
Hannenhalli S.,
Turner R.,
Yooseph S., ![]()
Lu F.,
Nusskern D.R.,
Shue B.C.,
Zheng X.H.,
Zhong F.,
Delcher A.L.,
Huson D.H.,
Kravitz S.A.,
Mouchard L.,
Reinert K.,
Remington K.A.,
Clark A.G.,
Waterman M.S.,
Eichler E.E.,
Adams M.D.,
Hunkapiller M.W.,
Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
|
[7]
|
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).
|
[8]
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PROTEIN SEQUENCE OF 2-218.
PubMed=7107641 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson J.M.,
Tarr G.E.,
Mahoney W.C.,
Kelley W.N.;
"Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.";
J. Biol. Chem. 257:10978-10985(1982).
|
[9]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-9.
PubMed=3023844 [NCBI, ExPASy, EBI, Israel, Japan]
Patel P.I.,
Framson P.E.,
Caskey C.T.,
Chinault A.C.;
"Fine structure of the human hypoxanthine phosphoribosyltransferase gene.";
Mol. Cell. Biol. 6:393-403(1986).
|
[10]
|
X-RAY CRYSTALLOGRAPHY (2.45 ANGSTROMS).
DOI=10.1016/0092-8674(94)90301-8; PubMed=8044844 [NCBI, ExPASy, EBI, Israel, Japan]
Eads J.C.,
Scapin G.,
Xu Y.,
Grubmeyer C.,
Sacchettini J.C.;
"The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.";
Cell 78:325-334(1994).
|
[11]
|
X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS).
DOI=10.1038/9376; PubMed=10360366 [NCBI, ExPASy, EBI, Israel, Japan]
Shi W.,
Li C.M.,
Tyler P.C.,
Furneaux R.H.,
Grubmeyer C.,
Schramm V.L.,
Almo S.C.;
"The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.";
Nat. Struct. Biol. 6:588-593(1999).
|
[12]
|
X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS).
PubMed=10338013 [NCBI, ExPASy, EBI, Israel, Japan]
Balendiran G.K.,
Molina J.A.,
Xu Y.,
Torres-Martinez J.,
Stevens R.,
Focia P.J.,
Eakin A.E.,
Sacchettini J.C.,
Craig S.P. III;
"Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding.";
Protein Sci. 8:1023-1031(1999).
|
[13]
|
REVIEW ON VARIANTS.
DOI=10.1007/BF00220062; PubMed=1487231 [NCBI, ExPASy, EBI, Israel, Japan]
Sculley D.G.,
Dawson P.A.,
Emmerson B.T.,
Gordon R.B.;
"A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.";
Hum. Genet. 90:195-207(1992).
|
[14]
|
VARIANT GOUT TORONTO GLY-51.
PubMed=6853490 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson J.M.,
Kobayashi R.,
Fox I.H.,
Kelley W.N.;
"Human hypoxanthine-guanine phosphoribosyltransferase.";
J. Biol. Chem. 258:6458-6460(1983).
|
[15]
|
VARIANT LNS KINSTON ASN-194.
PubMed=6853716 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson J.M.,
Kelley W.N.;
"Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.";
J. Clin. Invest. 71:1331-1335(1983).
|
[16]
|
VARIANT GOUT LONDON LEU-110.
PubMed=6572373 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson J.M.,
Tarr G.E.,
Kelley W.N.;
"Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.";
Proc. Natl. Acad. Sci. U.S.A. 80:870-873(1983).
|
[17]
|
VARIANT GOUT MUNICH ARG-104.
PubMed=6706936 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson J.M.,
Kelley W.N.;
"Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.";
J. Biol. Chem. 259:27-30(1984).
|
[18]
|
VARIANT GOUT MUNICH ARG-104.
PubMed=3358423 [NCBI, ExPASy, EBI, Israel, Japan]
Cariello N.F.,
Scott J.K.,
Kat A.G.,
Thilly W.G.,
Keohavong P.;
"Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.";
Am. J. Hum. Genet. 42:726-734(1988).
|
[19]
|
VARIANT LNS FLINT LEU-74.
DOI=10.1016/0378-1119(88)90536-7; PubMed=3384338 [NCBI, ExPASy, EBI, Israel, Japan]
Davidson B.L.,
Pashmforoush M.,
Kelly W.N.,
Palella T.D.;
"Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).";
Gene 63:331-336(1988).
|
[20]
|
VARIANT LNS MIDLAND ASP-130.
DOI=10.1016/0378-1119(88)90601-4; PubMed=3265398 [NCBI, ExPASy, EBI, Israel, Japan]
Davidson B.L.,
Palella T.D.,
Kelly W.N.;
"Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).";
Gene 68:85-91(1988).
|
[21]
|
VARIANT ANN ARBOR.
DOI=10.1007/BF00291707; PubMed=2896620 [NCBI, ExPASy, EBI, Israel, Japan]
Fujimori S.,
Hidaka Y.,
Davidson B.L.,
Palella T.D.,
Kelley W.N.;
"Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).";
Hum. Genet. 79:39-43(1988).
|
[22]
|
VARIANT GOUT LONDON LEU-110.
PubMed=3198771 [NCBI, ExPASy, EBI, Israel, Japan]
Davidson B.L.,
Chin S.J.,
Wilson J.M.,
Kelley W.N.,
Palella T.D.;
"Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.";
J. Clin. Invest. 82:2164-2167(1988).
|
[23]
|
VARIANTS DIRRANBANDI AND YERONGA.
DOI=10.1007/BF01800364; PubMed=3148064 [NCBI, ExPASy, EBI, Israel, Japan]
Keough D.T.,
Gordon R.B.,
Dejersey J.,
Emmerson B.T.;
"Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.";
J. Inherit. Metab. Dis. 11:229-238(1988).
|
[24]
|
VARIANTS JAPAN-1 AND JAPAN-2.
PubMed=2572141 [NCBI, ExPASy, EBI, Israel, Japan]
Igarashi T.,
Minami M.,
Nishida Y.;
"Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.";
Acta Paediatr. Jpn. Overseas Ed. 31:303-313(1989).
|
[25]
|
VARIANT GOUT ASHVILLE GLY-201.
PubMed=2909537 [NCBI, ExPASy, EBI, Israel, Japan]
Davidson B.L.,
Pashmforoush M.,
Kelly W.N.,
Palella T.D.;
"Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).";
J. Biol. Chem. 264:520-525(1989).
|
[26]
|
VARIANT LNS YALE ARG-71.
PubMed=2910902 [NCBI, ExPASy, EBI, Israel, Japan]
Fujimori S.,
Davidson B.L.,
Kelley W.N.,
Palella T.D.;
"Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.";
J. Clin. Invest. 83:11-13(1989).
|
[27]
|
VARIANTS ARLINGEN; DETROIT; NEW BRITON AND NEW HAVEN.
PubMed=2738157 [NCBI, ExPASy, EBI, Israel, Japan]
Davidson B.L.,
Tarle S.A.,
Palella T.D.,
Kelley W.N.;
"Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.";
J. Clin. Invest. 84:342-346(1989).
|
[28]
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VARIANTS RKJ.
PubMed=2928313 [NCBI, ExPASy, EBI, Israel, Japan]
Gibbs R.A.,
Nguyen P.N.,
McBride L.J.,
Koepf S.M.,
Caskey C.T.;
"Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.";
Proc. Natl. Acad. Sci. U.S.A. 86:1919-1923(1989).
|
[29]
|
VARIANTS LNS RJK LYS-45; LEU-74; ASP-130; SER-131; LYS-143; SER-161; TYR-177; ASN-194; VAL-199; ASP-204 AND TYR-206.
DOI=10.1016/0888-7543(90)90545-6; PubMed=2347587 [NCBI, ExPASy, EBI, Israel, Japan]
Gibbs R.A.,
Nguyen P.N.,
Edwards A.,
Civitello A.B.,
Caskey C.T.;
"Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.";
Genomics 7:235-244(1990).
|
[30]
|
VARIANT LNS MONTREAL THR-57.
DOI=10.1007/BF00276334; PubMed=2358296 [NCBI, ExPASy, EBI, Israel, Japan]
Skopek T.R.,
Recio L.,
Simpson D.,
Dallaire L.,
Melancon S.B.,
Ogier H.,
O'Neill J.P.,
Falta M.T.,
Nicklas J.A.,
Albertini R.J.;
"Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.";
Hum. Genet. 85:111-116(1990).
|
[31]
|
VARIANT LNS BRISBANE ILE-168.
DOI=10.1007/BF01799570; PubMed=2246854 [NCBI, ExPASy, EBI, Israel, Japan]
Gordon R.B.,
Sculley D.G.,
Dawson P.A.,
Beacham I.R.,
Emmerson B.T.;
"Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).";
J. Inherit. Metab. Dis. 13:692-700(1990).
|
[32]
|
VARIANTS GRAVESEND; MASHAD; HEAPEY; BANBURY; RUNCORN; FARNHAM; MARLOW AND READING.
PubMed=2018042 [NCBI, ExPASy, EBI, Israel, Japan]
Davidson B.L.,
Tarle S.A.,
van Antwerp M.,
Gibbs D.A.,
Watts R.W.E.,
Kelley W.N.,
Palella T.D.;
"Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.";
Am. J. Hum. Genet. 48:951-958(1991).
|
[33]
|
VARIANTS LNS TYR-28 DEL; VAL-50; GLU-70; LEU-74; THR-183 AND ARG-204.
DOI=10.1016/0888-7543(91)90341-B; PubMed=2071157 [NCBI, ExPASy, EBI, Israel, Japan]
Tarle S.A.,
Davidson B.L.,
Wu V.C.,
Zidar F.J.,
Seegmiller J.E.,
Kelley W.N.,
Palella T.D.;
"Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.";
Genomics 10:499-501(1991).
|
[34]
|
VARIANTS PERTH; SWAN; TOOWONG AND URANGAN.
DOI=10.1007/BF00201727; PubMed=1937471 [NCBI, ExPASy, EBI, Israel, Japan]
Sculley D.G.,
Dawson P.A.,
Beacham I.R.,
Emmerson B.T.,
Gordon R.B.;
"Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.";
Hum. Genet. 87:688-692(1991).
|
[35]
|
VARIANT ALA-188, AND NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 183-193.
PubMed=1840476 [NCBI, ExPASy, EBI, Israel, Japan]
Yamada Y.,
Goto H.,
Ogasawara N.;
"Identification of two independent Japanese mutant HPRT genes using the PCR technique.";
Adv. Exp. Med. Biol. 309B:121-124(1991).
|
[36]
|
VARIANT EDINBURGH GLY-52, AND NUCLEOTIDE SEQUENCE.
DOI=10.1007/BF02265300; PubMed=1551676 [NCBI, ExPASy, EBI, Israel, Japan]
Lightfoot T.,
Joshi R.,
Nuki G.,
Snyder F.F.;
"The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.";
Hum. Genet. 88:695-696(1992).
|
[37]
|
VARIANTS, AND NUCLEOTIDE SEQUENCE [MRNA] OF 35-50.
DOI=10.1093/hmg/1.6.427; PubMed=1301916 [NCBI, ExPASy, EBI, Israel, Japan]
Sege-Paterson K.,
Chambers J.,
Page T.,
Jones O.W.,
Nyhan W.L.;
"Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.";
Hum. Mol. Genet. 1:427-432(1992).
|
[38]
|
VARIANT GOUT MOOSE JAW GLU-194, AND NUCLEOTIDE SEQUENCE.
Lightfoot T.,
Snyder F.F.;
Submitted (MAR-1994) to the EMBL/GenBank/DDBJ databases.
|
[39]
|
VARIANT LNS ISAR PHE-42.
PubMed=7627191 [NCBI, ExPASy, EBI, Israel, Japan]
Burgemeister R.,
Roetzer E.,
Gutensohn W.,
Gehrke M.,
Schiel W.;
"Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.";
Hum. Mutat. 5:341-344(1995).
|
[40]
|
VARIANT ARG-61.
DOI=10.1007/s004390050300; PubMed=9003484 [NCBI, ExPASy, EBI, Israel, Japan]
Fujimori S.,
Sakuma R.,
Yamaoka N.,
Hakoda M.,
Yamanaka H.,
Kamatani N.;
"An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans.";
Hum. Genet. 99:8-10(1997).
|
[41]
|
VARIANT LNS ROANNE VAL-177.
PubMed=9452051 [NCBI, ExPASy, EBI, Israel, Japan]
Liu G.,
Aral B.,
Zabot M.-T.,
Kamoun P.,
Ceballos-Picot I.;
"The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.";
Hum. Mutat. Suppl. 1:S88-S90(1998).
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