Partial deficiency of red cell 6-phosphogluconate dehydrogenase: a family study.
作者信息
Ajmar F, Lamedica G, Garrè C, Ravazzolo R, Sessarego M, Campostano A
出版信息
Hum Genet. 1979;52(3):347-51. doi: 10.1007/BF00278684.
PMID:535893
Abstract
A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD0 allele. Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.
摘要
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