枫糖尿症：一个家族中的两种不同形式。
Maple syrup urine disease: two different forms within a single family.
作者信息
Frézal J, Amédée-Manesme O, Mitchell G, Heuertz S, Rey F, Rey J, Saudubray J M
出版信息
Hum Genet. 1985;71(1):89-91. doi: 10.1007/BF00295676.
PMID:4029957
Abstract
A family is reported in which the index case presented with an acute form of maple syrup urine disease (MSUD), whereas two of her sisters and her father were found to have an almost asymptomatic form of the disease. It is proposed that the members of this family are compound heterozygotes for the classical deficient mutant gene and for a "variant" allele.
摘要
据报道，有一个家庭，其中先证者表现为急性型枫糖尿症（MSUD），而她的两个姐妹和父亲被发现患有几乎无症状形式的该疾病。有人提出，这个家庭的成员是经典缺陷突变基因和一个“变异”等位基因的复合杂合子。
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