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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, the RP10 form of adRP, maps to human chromosome 7q31.1 and may account for 5–10% of adRP cases among Americans and Europeans. We identified two American fam...

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Detalhes bibliográficos
Main Authors: Bowne, Sara J., Sullivan, Lori S., Blanton, Susan H., Cepko, Constance L., Blackshaw, Seth, Birch, David G., Hughbanks-Wheaton, Dianna, Heckenlively, John R., Daiger, Stephen P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2585828/
https://ncbi.nlm.nih.gov/pubmed/11875050
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