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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
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