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Identification of three novel mutations in the MYO7A gene.

Authors :
Cuevas JM
Espinós C
Millán JM
Sánchez F
Trujillo MJ
Ayuso C
Beneyto M
Nájera C
Source :
Human mutation [Hum Mutat] 1999 Aug 19; Vol. 14 (2), pp. 181.
Publication Year :
1999

Abstract

Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.<br /> (Copyright 1999 Wiley-Liss, Inc.)

Details

Language :
English
ISSN :
1098-1004
Volume :
14
Issue :
2
Database :
MEDLINE
Journal :
Human mutation
Publication Type :
Academic Journal
Accession number :
10447383
Full Text :
https://doi.org/10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3