Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa

PURPOSE: To determine whether genomic rearrangements in the PRPF31 (RP11) gene are a frequent cause of autosomal dominant retinitis pigmentosa (adRP) in a cohort of patients with adRP. METHODS: In a cohort of 200 families with adRP, disease-causing mutations have previously been identified in 107 fa...

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主要な著者: Sullivan, Lori S., Bowne, Sara J., Seaman, C. Robyn, Blanton, Susan H., Lewis, Richard A., Heckenlively, John R., Birch, David G., Hughbanks-Wheaton, Dianna, Daiger, Stephen P.
フォーマット: Artigo
言語:Inglês
出版事項: 2006
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2778205/
https://ncbi.nlm.nih.gov/pubmed/17003455
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.06-0440
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