首页   按字顺浏览 期刊浏览 卷期浏览 Exclusion of Usher syndrome gene from much of chromosome 4
Exclusion of Usher syndrome gene from much of chromosome 4

 

作者: R.J.H. Smith,   J.D. Holcomb,   S.P. Daiger,   C.T. Caskey,   M.Z. Pelias,   B.R. Alford,   D.D. Fontenot,   J.F. Hejtmancik,  

 

期刊: Cytogenetic and Genome Research  (Karger Available online 1989)
卷期: Volume 50, issue 2-3  

页码: 102-106

 

ISSN:1424-8581

 

年代: 1989

 

DOI:10.1159/000132733

 

出版商: S. Karger AG

 

数据来源: Karger

 

摘要:

Usher syndrome is an autosomal recessive disease characterized by dual sensory impairments; affected individuals are born with a sensorineural hearing loss and ultimately lose their sight as retinitis pigmentosa develops. Conventional protein markers previously tested in a Louisiana Acadian kindred suggested tentative linkage to vitamin D-binding protein on chromosome 4. DNA linkage studies do not confirm this linkage relationship and exclude much of chromosome 4 as the site of the Usher syndrome gene in these families.

 

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