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