一种快速型血清白蛋白变异体的纯合子。
A homozygote for a serum albumin variant of the fast type.
作者信息
Vanzetti G, Porta F, Prencipe L, Scherini A, Fraccaro M
出版信息
Hum Genet. 1979 Jan 19;46(1):5-9. doi: 10.1007/BF00278896.
PMID:429006
Abstract
A healthy, 10-year-old male born in Milano to a family from Southern Italy (Puglia) was found to be a homozygote for an albumin variant of the fast type. His parents are half-first cousins. Their common grandfather, the parents, one sister, and three brothers of the child were all heterozygotes for the same albumin variant. This seems to be the first case of a homozygote for a fast albumin variant described in Europe.
摘要
一名健康的10岁男性，出生于米兰，其家族来自意大利南部（普利亚），被发现是一种快速型白蛋白变异体的纯合子。他的父母是半第一代堂亲。他们的共同祖父、孩子的父母、一个姐姐和三个兄弟都是同一白蛋白变异体的杂合子。这似乎是欧洲报道的首例快速白蛋白变异体纯合子病例。
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