A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy

PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy in a consanguineous Israeli Christian Arab family. METHODS: Patients underwent a detailed ophthalmic examination, including funduscopy, electroretinography (ERG), visual field testing, and optical coherence tomograp...

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Detalles Bibliográficos
Autores principales: Cohen, Ben, Chervinsky, Elena, Jabaly-Habib, Haneen, Shalev, Stavit A., Briscoe, Daniel, Ben-Yosef, Tamar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519373/
https://www.ncbi.nlm.nih.gov/pubmed/23233793

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519373/
https://www.ncbi.nlm.nih.gov/pubmed/23233793

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