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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)

Open Access Green as soon as Postprint is submitted to ZB.

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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

ISSN (print) / ISBN 1059-7794

e-ISSN 1098-1004

Journal Human Mutation

Quellenangaben Volume: 19, Pages: 268-273

Publisher Wiley

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)