A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy

被引：6
|
作者：
Yamada, T
Kobayashi, T
机构：
来源：
HUMAN GENETICS | 1996年 / 97卷 / 05期
关键词：
D O I：
10.1007/s004390050119
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Sequencing of the STA gene in a patient with Emery-Dreifuss muscular dystrophy showed a 1-bp deletion of C at nucleotide 672 or 673. This deletion causes a frameshift, changing the amino acid sequence (amino acids 206-235) and generating an early stop codon.
引用
收藏
页码：693 / 694
页数：2
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