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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.

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 inclu...

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Bibliografische gegevens
Hoofdauteurs: Riess, O, Noerremoelle, A, Weber, B, Musarella, M A, Hayden, M R
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1992
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682813/
https://ncbi.nlm.nih.gov/pubmed/1329504
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