Pyruvate kinase deficiency in a South African kindred caused by a 1529A mutation in the PK-LR gene.
Durand
Pierre M
PM
Coetzer
Theresa L
TL
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D013019:South Africa
D011770:Pyruvate Kinase