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The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

Riess, O, Noerremoelle, A, Weber, Bernhard H. F. , Musarella, M A and Hayden, M (1992) The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. The American Journal of Human Genetics 51 (4), pp. 755-762.

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Abstract

The finding of a mutation in the beta subunit of the cyclic GMP (cGMP) phosphodiesterase gene causing retinal degeneration in mice (the Pdeb gene) prompted a search for disease-causing mutations in the human phosphodiesterase gene (PDEB gene) in patients with retinitis pigmentosa. All 22 exons including 196 bp of the 5' region of the PDEB gene have been assessed for mutations by using ...

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Item type:Article
Date:1992
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
1329504PubMed 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:35295
Owner only: item control page
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