A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family

PURPOSE: To investigate the genetic basis for autosomal recessive severe early-onset retinitis pigmentosa (RP) in a consanguineous Israeli Muslim Arab family. METHODS: Haplotype analysis for all known genes underlying autosomal recessive RP was performed. Mutation screening of the underlying gene wa...

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Autores principales: Abbasi, Anan H., Garzozi, Hanna J., Ben-Yosef, Tamar
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2329669/
https://ncbi.nlm.nih.gov/pubmed/18432314
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