Article
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Investigative ophthalmology & visual science - 1 Jul 2006
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
Abstract excerpt
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 inclusion in the adRP cohort included either evidence of at least three generations of affected individuals or two...
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