Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family

PURPOSE: To identify the genetic defect in a consanguineous Israeli Muslim Arab family with juvenile retinitis pigmentosa (RP). METHODS: DNA samples were collected from the index patient, her parents, her affected sister, and two non-affected siblings. Genome-wide linkage analysis with 250 K single...

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Detalles Bibliográficos
Autores principales: Mayer, Anja-Kathrin, Mahajnah, Muhammad, Zobor, Ditta, Bonin, Michael, Sharkia, Rajech, Wissinger, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360169/
https://www.ncbi.nlm.nih.gov/pubmed/25814828

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360169/
https://www.ncbi.nlm.nih.gov/pubmed/25814828

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