Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

PURPOSE: To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP. METHODS: Two hundred adRP families, drawn from a cohort of more than 400 potential families, were selected by analysis of pedigrees. Minimum criteria for i...

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Autores principales: Sullivan, Lori S., Bowne, Sara J., Birch, David G., Hughbanks-Wheaton, Dianna, Heckenlively, John R., Lewis, Richard Alan, Garcia, Charles A., Ruiz, Richard S., Blanton, Susan H., Northrup, Hope, Gire, Anisa I., Seaman, Robyn, Duzkale, Hatice, Spellicy, Catherine J., Zhu, Jingya, Shankar, Suma P., Daiger, Stephen P.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2006
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2585061/
https://ncbi.nlm.nih.gov/pubmed/16799052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.05-1443
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