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von Brederlow, B.* ; Bolz, H.* ; Janecke, A.* ; La O Cabrera, A.* ; Rudolph, G. ; Lorenz, B.* ; Schwinger, E.* ; Gal, A.*

Identification and In Vitro Expression of Novel CDH23 Mutations of Patients with Usher Syndrome Type 1D.

Hum. Mutat. 19, 268-273 (2002)
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Publication type Article: Journal article
Document type Scientific Article
Keywords Usher syndrome; USH1D; cadherin 23; CDH23; DFNB12; exon trapping; splicing; deafness; retinal disease; retinitis pigmentosa; RP
Language english
Publication Year 2002
HGF-reported in Year 2002
ISSN (print) / ISBN 1059-7794
e-ISSN 1098-1004
Journal Human Mutation
Quellenangaben Volume: 19, Issue: , Pages: 268-273 Article Number: , Supplement: ,
Publisher Wiley
Reviewing status Peer reviewed
Research field(s) Genetics and Epidemiology
PSP Element(s) FE 70791
PubMed ID 11857743
Erfassungsdatum 2002-12-02