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Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis

Riess, O, Weber, Bernhard H. F. , Noeremolle, A, Shaikh, R A, Hayden, M R and Musarella, M A (1992) Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis. Human Mutation 1 (6), pp. 478-485.

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Abstract

The phenotype in the rd mouse is similar to the clinical presentation of Leber congenital amaurosis (LCA) in humans. Recently a nonsense mutation in the beta subunit of the cGMP phosphodiesterase (Pdeb) gene has been defined as the cause for the rd phenotype in the mouse and has raised the question as to whether mutations in the human PDEB gene might cause LCA. We have previously cloned and ...

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Item type:Article
Date:1992
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/humu.1380010605DOI
1338765PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35348
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