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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