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X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

Authors :
Bassi, Maria T.
Ramesar, Rajkumar S.
Caciotti, Barbara
Winship, Ingrid M.
De Randi, Alessandro
Riboni, Mirko
Townes, Philip L.
Beighton, Peter
Ballabio, Andrea
Borsani, Giuseppe
Source :
American Journal of Human Genetics. June, 1999, Vol. 64 Issue 6, p1604, 13 p.
Publication Year :
1999

Abstract

A new gene, termed transducin beta-like 1 or TBL1, has been isolated that appears to be involved in X-linked late-onset sensironeural deafness associated with ocular albinism. TBL1 has 18 exons covering about 150 kb in the Xp22.3 region next to the ocular albinism gene (OA1). The new gene has characteristics that place it in the WD-40-repeat protein family.

Details

ISSN :
00029297
Volume :
64
Issue :
6
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.54954899