[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Fibroblast;
PubMed=2840550 [NCBI, ExPASy, EBI, Israel, Japan]
Reichardt J.K.V.,
Berg P.;
"Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.";
Mol. Biol. Med. 5:107-122(1988).
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[2]
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SEQUENCE REVISION.
PubMed=2233247 [NCBI, ExPASy, EBI, Israel, Japan]
Flach J.E.,
Reichardt J.K.V.,
Elsas L.J. II;
"Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.";
Mol. Biol. Med. 7:365-369(1990).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GALACTOSEMIA ARG-188.
DOI=10.1016/S0888-7543(05)80244-7; PubMed=1427861 [NCBI, ExPASy, EBI, Israel, Japan]
Leslie N.D.,
Immerman E.B.,
Flach J.E.,
Florez M.,
Fridovich-Keil J.L.,
Elsas L.J.;
"The human galactose-1-phosphate uridyltransferase gene.";
Genomics 14:474-480(1992).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASP-314.
TISSUE=Skin;
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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REVIEW ON GALACTOSEMIA MUTATIONS.
PubMed=1301925 [NCBI, ExPASy, EBI, Israel, Japan]
Reichardt J.K.V.;
"Genetic basis of galactosemia.";
Hum. Mutat. 1:190-196(1992).
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[6]
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REVIEW ON GALACTOSEMIA MUTATIONS.
DOI=10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0; PubMed=10408771 [NCBI, ExPASy, EBI, Israel, Japan]
Tyfield L.,
Reichardt J.,
Fridovich-Keil J.,
Croke D.T.,
Elsas L.J. II,
Strobl W.,
Kozak L.,
Coskun T.,
Novelli G.,
Okano Y.,
Zekanowski C.,
Shin Y.,
Boleda M.D.;
"Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene.";
Hum. Mutat. 13:417-430(1999).
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[7]
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VARIANTS GALACTOSEMIA ARG-188 AND TRP-333.
PubMed=1897530 [NCBI, ExPASy, EBI, Israel, Japan]
Reichardt J.K.V.,
Packman S.,
Woo S.L.C.;
"Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.";
Am. J. Hum. Genet. 49:860-867(1991).
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[8]
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VARIANTS GALACTOSEMIA MET-44 AND LYS-142, AND VARIANTS MET-62 AND ASP-314.
PubMed=2011574 [NCBI, ExPASy, EBI, Israel, Japan]
Reichardt J.K.V.,
Woo S.L.C.;
"Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.";
Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991).
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[9]
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ERRATUM.
Reichardt J.K.V.,
Woo S.L.C.;
Proc. Natl. Acad. Sci. U.S.A. 88:7457-7457(1991).
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[10]
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VARIANTS GALACTOSEMIA PRO-74 AND SER-171, AND VARIANT LEU-135.
DOI=10.1021/bi00139a002; PubMed=1610789 [NCBI, ExPASy, EBI, Israel, Japan]
Reichardt J.K.V.,
Levy H.L.,
Woo S.L.C.;
"Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.";
Biochemistry 31:5430-5433(1992).
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[11]
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VARIANTS GALACTOSEMIA TRP-148 AND PRO-195.
DOI=10.1016/0888-7543(92)90453-Y; PubMed=1373122 [NCBI, ExPASy, EBI, Israel, Japan]
Reichardt J.K.V.,
Belmont J.W.,
Levy H.L.,
Woo S.L.C.;
"Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.";
Genomics 12:596-600(1992).
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[12]
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VARIANT GALACTOSEMIA GLN-319.
DOI=10.1093/hmg/2.3.325; PubMed=8499924 [NCBI, ExPASy, EBI, Israel, Japan]
Reichardt J.K.V.,
Novelli G.,
Dallapiccola B.;
"Molecular characterization of the H319Q galactosemia mutation.";
Hum. Mol. Genet. 2:325-326(1993).
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[13]
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VARIANT DUARTE.
DOI=10.1007/BF00210604; PubMed=8112740 [NCBI, ExPASy, EBI, Israel, Japan]
Lin H.-C.,
Kirby L.T.,
Ng W.G.,
Reichardt J.K.V.;
"On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).";
Hum. Genet. 93:167-169(1994).
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[14]
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VARIANTS GALACTOSEMIA.
PubMed=7887416 [NCBI, ExPASy, EBI, Israel, Japan]
Elsas L.J.,
Langley S.D.,
Steele E.,
Evinger J.,
Frodovich-Keil J.L.,
Brown A.,
Singh R.,
Fernhoff P.,
Hjelm L.N.,
Dembure P.P.;
"Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.";
Am. J. Hum. Genet. 56:630-639(1995).
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[15]
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VARIANTS GALACTOSEMIA LEU-135; ALA-151 AND ARG-188.
PubMed=7887417 [NCBI, ExPASy, EBI, Israel, Japan]
Fridovich-Keil J.L.,
Langley S.D.,
Mazur L.A.,
Lennon J.C.,
Dembure P.P.,
Elsas L.J. II;
"Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.";
Am. J. Hum. Genet. 56:640-646(1995).
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[16]
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VARIANTS GALACTOSEMIA CYS-67 AND VAL-330.
DOI=10.1007/BF02436001; PubMed=8598637 [NCBI, ExPASy, EBI, Israel, Japan]
Sommer M.,
Gathof B.S.,
Podskarbi T.,
Giugliani R.,
Kleinlein B.,
Shin Y.S.;
"Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.";
J. Inherit. Metab. Dis. 18:567-576(1995).
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[17]
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VARIANTS GALACTOSEMIA HIS-231; ASP-314 AND TRP-333.
PubMed=7550229 [NCBI, ExPASy, EBI, Israel, Japan]
Ashino J.,
Okano Y.,
Suyama I.,
Yamazaki T.,
Yoshino M.,
Furuyama J.,
Lin H.-C.,
Reichardt J.K.V.,
Isshiki G.;
"Molecular characterization of galactosemia (type 1) mutations in Japanese.";
Hum. Mutat. 6:36-43(1995).
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[18]
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VARIANTS GALACTOSEMIA CYS-55 AND PHE-329.
DOI=10.1007/s004310050425; PubMed=8741038 [NCBI, ExPASy, EBI, Israel, Japan]
Shin Y.S.,
Gathof B.S.,
Podskarbi T.,
Sommer M.,
Giugliani R.,
Gresser U.;
"Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.";
Eur. J. Pediatr. 155:393-397(1996).
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[19]
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VARIANTS GALACTOSEMIA LEU-150; THR-183; ARG-188 AND GLN-319.
DOI=10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.3.CO;2-L; PubMed=8956044 [NCBI, ExPASy, EBI, Israel, Japan]
Maceratesi P.,
Sangiuolo F.,
Novelli G.,
Ninfali P.,
Magnani M.,
Reichardt J.K.V.,
Dallapiccola B.;
"Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.";
Hum. Mutat. 8:369-372(1996).
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[20]
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VARIANT GALACTOSEMIA THR-183.
DOI=10.1007/BF00878541; PubMed=8869397 [NCBI, ExPASy, EBI, Israel, Japan]
Ninfali P.,
Bresolin N.,
Dallapiccola B.,
Novelli G.;
"Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.";
J. Neurol. 243:102-103(1996).
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[21]
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VARIANTS GALACTOSEMIA TYR-28; ASN-32; PRO-38; GLY-123; LEU-143 AND LEU-325.
DOI=10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.3.CO;2-H; PubMed=9222760 [NCBI, ExPASy, EBI, Israel, Japan]
Greber-Platzer S.,
Guldberg P.,
Scheibenreiter S.,
Item C.,
Schuller E.,
Patel N.,
Strobl W.;
"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.";
Hum. Mutat. 10:49-57(1997).
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[22]
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VARIANTS GALACTOSEMIA LYS-142; ASN-285; TYR-294 AND THR-320.
DOI=10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU17>3.3.CO;2-M; PubMed=10220154 [NCBI, ExPASy, EBI, Israel, Japan]
Seyrantepe V.,
Ozguc M.,
Coskun T.,
Ozalp I.,
Reichardt J.K.V.;
"Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y.";
Hum. Mutat. 13:339-339(1999).
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[23]
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VARIANTS GALACTOSEMIA GLN-51; TRP-135; ASN-229 AND HIS-252.
DOI=10.1002/humu.9330; PubMed=15841485 [NCBI, ExPASy, EBI, Israel, Japan]
Bosch A.M.,
Ijlst L.,
Oostheim W.,
Mulders J.,
Bakker H.D.,
Wijburg F.A.,
Wanders R.J.,
Waterham H.R.;
"Identification of novel mutations in classical galactosemia.";
Hum. Mutat. 25:502-502(2005).
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