A Novel Emerin Mutation in a Japanese Patient with Emery-Dreifuss Muscular Dystrophy

Overview

Journal Hum Genet

Specialty Genetics

Date 1996 May 1

PMID 8655156

Citations 3

Authors

T Yamada

T Kobayashi

Affiliations

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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.

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References

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