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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2006
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados