一个葡萄牙家庭中因葡萄糖-6-磷酸脱氢酶变异体（广东型）或（类广东型）缺乏而导致的蚕豆病。
Favism in a Portuguese family due to a deficient glucose-phosphate dehydrogenase variant (Canton) or (cpanton-like) type.
作者信息
Kahn A, Marie J, Desbois J C, Boivin P
出版信息
Acta Haematol. 1976;56(1):58-64. doi: 10.1159/000207919.
PMID:822676
Abstract
In a Portuguese boy with favism G-6PD deficiency was found. Deficiency was due to a G-6PD variant close or identical to Canton-type G-6PD. The muted protein had a lowered catalytic activity and furthermore, was unstable. The post-translational modifications undergone by this deficient G-6PD variant are described.
摘要
在一名患有蚕豆病的葡萄牙男孩中发现了葡萄糖-6-磷酸脱氢酶（G-6PD）缺乏症。该缺乏症是由一种与广州型G-6PD相近或相同的G-6PD变体引起的。这种失活的蛋白质具有较低的催化活性，而且不稳定。本文描述了这种缺陷型G-6PD变体所经历的翻译后修饰。
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