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Hum Genet. 1996 May;97(5):693-4.

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

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1
Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan. yamada@neuro.med.kyushu-u.ac.jp

Abstract

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.

PMID:
8655156
[Indexed for MEDLINE]
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