一名儿童，其11号外显子中的终止密码子为纯合子，相较于她的杂合子侄子，囊性纤维化症状较轻。
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.
作者信息
Cuppens H, Marynen P, De Boeck C, De Baets F, Eggermont E, Van den Berghe H, Cassiman J J
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
J Med Genet. 1990 Nov;27(11):717-9. doi: 10.1136/jmg.27.11.717.
Abstract
The clinical and molecular findings in an infant with mild manifestations of cystic fibrosis, who is homozygous for the G542X mutation, and her heterozygous nephew, who is severely affected, are described.
摘要
本文描述了一名患有轻度囊性纤维化表现的婴儿及其严重受影响的杂合子侄子的临床和分子学发现。该婴儿为G542X突变的纯合子。
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