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Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D
von Brederlow, Benigna, Bolz, Hanno, Janecke, Andreas
, La O Cabrera, Alicia, Rudolph, G�nther, Lorenz, Birgit, Schwinger, Eberhard and Gal, Andreas
(2002)
Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D.
Human Mutation 19 (3), pp. 268-273.
Date of publication of this fulltext: 19 Dec 2024 15:47
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| Item type | Article | ||||
| Journal or Publication Title | Human Mutation | ||||
| Publisher: | WILEY-BLACKWELL | ||||
|---|---|---|---|---|---|
| Place of Publication: | MALDEN | ||||
| Volume: | 19 | ||||
| Number of Issue or Book Chapter: | 3 | ||||
| Page Range: | pp. 268-273 | ||||
| Date | 2002 | ||||
| Institutions | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik | ||||
| Identification Number |
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| Keywords | SYNDROME TYPE 1F; GENETIC-HETEROGENEITY; HAPLOTYPE ANALYSIS; CADHERIN; Usher syndrome; USH1D; cadherin 23; CDH23; DFNB12; exon trapping; splicing; deafness; retinal disease; retinitis pigmentosa; RP | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 73248 |
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