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

被引:6
作者
Yamada, T
Kobayashi, T
机构
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.
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页码:693 / 694
页数:2
相关论文
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