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

页码：693 / 694

页数：2

共 4 条

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[4] EMERY-DREIFUSS MUSCULAR-DYSTROPHY
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OLARTE, M
HAYS, A
SINGH, N
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