[1]
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SEQUENCE FROM NUCLEIC ACID.
TISSUE=Liver;
MEDLINE=83169680; PubMed=6188151; [NCBI, ExPASy, EBI, Israel, Japan]
Michelson A.M.,
Markham A.F.,
Orkin S.H.;
"Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase.";
Proc. Natl. Acad. Sci. U.S.A. 80:472-476(1983).
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[2]
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SEQUENCE OF 1-416 FROM NUCLEIC ACID.
MEDLINE=86016816; PubMed=2995995; [NCBI, ExPASy, EBI, Israel, Japan]
Michelson A.M.,
Blake C.C.,
Evans S.T.,
Orkin S.H.;
"Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain.";
Proc. Natl. Acad. Sci. U.S.A. 82:6965-6969(1985).
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[3]
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SEQUENCE.
TISSUE=Erythrocyte;
MEDLINE=80227775; PubMed=7391027; [NCBI, ExPASy, EBI, Israel, Japan]
Huang I.-Y.,
Welch C.D.,
Yoshida A.;
"Complete amino acid sequence of human phosphoglycerate kinase. Cyanogen bromide peptides and complete amino acid sequence.";
J. Biol. Chem. 255:6412-6420(1980).
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[4]
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PARTIAL SEQUENCE.
TISSUE=Placenta;
MEDLINE=90216667; PubMed=2324090; [NCBI, ExPASy, EBI, Israel, Japan]
Jindal H.K.,
Vishwanatha J.K.;
"Functional identity of a primer recognition protein as phosphoglycerate kinase.";
J. Biol. Chem. 265:6540-6543(1990).
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[5]
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SEQUENCE OF 1-20 FROM NUCLEIC ACID.
MEDLINE=85155507; PubMed=6099325; [NCBI, ExPASy, EBI, Israel, Japan]
Singer-Sam J.,
Keith D.H.,
Tani K.,
Simmer R.L.,
Shively L.,
Lindsay S.,
Yoshida A.,
Riggs A.D.;
"Sequence of the promoter region of the gene for human X-linked 3-phosphoglycerate kinase].";
Gene 32:409-417(1984).
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[6]
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SEQUENCE OF 1-13 FROM NUCLEIC ACID.
MEDLINE=90049205; PubMed=2814502; [NCBI, ExPASy, EBI, Israel, Japan]
Pfeifer G.P.,
Steigerwald S.D.,
Mueller P.R.,
Wold B.,
Riggs A.D.;
"Genomic sequencing and methylation analysis by ligation mediated PCR.";
Science 246:810-813(1989).
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[7]
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REVIEW ON VARIANTS.
MEDLINE=97230014; PubMed=9075577; [NCBI, ExPASy, EBI, Israel, Japan]
Yoshida A.;
"Hematologically important mutations: molecular abnormalities of phosphoglycerate kinase.";
Blood Cells Mol. Dis. 22:265-267(1996).
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[8]
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VARIANT CHRONIC HEMOLYTIC ANEMIA LYS-190 DEL.
MEDLINE=96230923; PubMed=8673469; [NCBI, ExPASy, EBI, Israel, Japan]
Yoshida A.,
Twele T.W.,
Dave V.,
Beutler E.;
"Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama).";
Blood Cells Mol. Dis. 21:179-181(1995).
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[9]
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VARIANT CHRONIC HEMOLYTIC ANEMIA/MENTAL RETARDATION VAL-163, AND VARIANT RHABDOMYOLYSIS ASN-314.
MEDLINE=94318968; PubMed=8043870; [NCBI, ExPASy, EBI, Israel, Japan]
Cohen-Solal M.,
Valentin C.,
Plassa F.,
Guillemin G.,
Danze F.,
Jaisson F.,
Rosa R.;
"Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens.";
Blood 84:898-903(1994).
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[10]
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VARIANT CHRONIC HEMOLYTIC ANEMIA ALA-251.
MEDLINE=96201344; PubMed=8615693; [NCBI, ExPASy, EBI, Israel, Japan]
Ookawara T.,
Dave V.,
Willems P.,
Martin J.J.,
de Barsy T.,
Matthys E.,
Yoshida A.;
"Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.";
Arch. Biochem. Biophys. 327:35-40(1996).
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[11]
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VARIANT CHRONIC HEMOLYTIC ANEMIA VAL-284.
MEDLINE=98415729; PubMed=9744480; [NCBI, ExPASy, EBI, Israel, Japan]
Valentin C.,
Birgens H.,
Craescu C.T.,
Broedum-Nielsen K.,
Cohen-Solal M.;
"A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.";
Hum. Mutat. 12:280-287(1998).
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[12]
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VARIANT CONGENITAL NONSPHEROCYTIC ANEMIA PRO-87.
MEDLINE=91159642; PubMed=2001457; [NCBI, ExPASy, EBI, Israel, Japan]
Maeda M.,
Yoshida A.;
"Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu-->Pro substitution caused by T/A-->C/G transition in exon 3.";
Blood 77:1348-1352(1991).
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[13]
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VARIANT CHRONIC HEMOLYTIC ANEMIA ARG-315.
MEDLINE=92265933; PubMed=1586722; [NCBI, ExPASy, EBI, Israel, Japan]
Maeda M.,
Bawle E.V.,
Kulkarni R.,
Beutler E.,
Yoshida A.;
"Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation.";
Blood 79:2759-2762(1992).
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[14]
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VARIANT MUNCHEN ASN-267.
MEDLINE=80227776; PubMed=7391028; [NCBI, ExPASy, EBI, Israel, Japan]
Fujii H.,
Krietsch W.K.G.,
Yoshida A.;
"A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK Munchen) associated with enzyme deficiency.";
J. Biol. Chem. 255:6421-6423(1980).
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[15]
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VARIANT MUNCHEN ASN-267, AND VARIANT ASN-351.
MEDLINE=81069227; PubMed=7440217; [NCBI, ExPASy, EBI, Israel, Japan]
Huang I.-Y.,
Fujii H.,
Yoshida A.;
"Structure and function of normal and variant human phosphoglycerate kinase.";
Hemoglobin 4:601-609(1980).
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[16]
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VARIANT CHRONIC HEMOLYTIC ANEMIA VAL-157.
MEDLINE=92190498; PubMed=1547346; [NCBI, ExPASy, EBI, Israel, Japan]
Fujii H.,
Kanno H.,
Hirono A.,
Shiomura T.,
Miwa S.;
"A single amino acid substitution (157 Gly-->Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria.";
Blood 79:1582-1585(1992).
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[17]
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VARIANT CHRONIC NONSPHEROCYTIC HEMOLYTIC ANEMIA MET-265.
MEDLINE=81223926; PubMed=6941312; [NCBI, ExPASy, EBI, Israel, Japan]
Fujii H.,
Chen S.-H.,
Akatsuka J.,
Miwa S.,
Yoshida A.;
"Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia.";
Proc. Natl. Acad. Sci. U.S.A. 78:2587-2590(1981).
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[18]
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VARIANT CHRONIC HEMOLYTIC ANEMIA PRO-205.
MEDLINE=81054987; PubMed=6933565; [NCBI, ExPASy, EBI, Israel, Japan]
Fujii H.,
Yoshida A.;
"Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia.";
Proc. Natl. Acad. Sci. U.S.A. 77:5461-5465(1980).
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