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Journal article

CRB1 mutation spectrum in inherited retinal dystrophies.

Abstract:

Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA). We extended our investigations of CRB1 in these retinal dystrophies, and identified nine novel CRB1 sequence variants. In addition, we screened pa...

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Publication status:
Published

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Publisher copy:
10.1002/humu.20093

Authors


Journal:
Human mutation
Volume:
24
Issue:
5
Pages:
355-369
Publication date:
2004-11-01
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
Source identifiers:
100328
Language:
English
Keywords:
Pubs id:
pubs:100328
UUID:
uuid:4fa22421-40a0-4e4d-86b1-7ad27c301393
Local pid:
pubs:100328
Deposit date:
2012-12-19

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