红细胞6 - 磷酸葡萄糖酸脱氢酶部分缺乏症：一项家族研究。
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
本文描述了一个患有红细胞6-磷酸葡萄糖脱氢酶（6PGD）部分缺乏症的家族。生化和电泳分析表明，部分缺乏症是由于一个沉默的PGD0等位基因所致。染色体分析及紧密连锁标记物检测未发现明显可检测到的缺失。
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