• Mutation; HGNC; HGNC:8896; PGK1; Simple; p.Leu88Pro (c.263T>C); ClinVar=VCV000009946; Zygosity=Hemizygous; Note=PGK-Matsue (PubMed=2001457).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=3840329; PMCID=PMC1684693
Tani K., Takizawa T., Yoshida A.
Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiency.
Am. J. Hum. Genet. 37:931-937(1985)

PubMed=2001457; DOI=10.1182/blood.V77.6.1348.1348
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)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)