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Hum Mutat. 1998;12(3):213.

First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.

Author information

1
Department of Genetics, Fundación Jiménez Díaz, Madrid. gentical@uni.fjd.es

Abstract

A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exon eight corresponding to a new mutation not described before. The mutation was identified as a nonsense mutation S340X.

PMID:
10651486
[Indexed for MEDLINE]

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