AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

PURPOSE: To localize and identify the gene and mutations causing autosomal recessive retinal dystrophy in two consanguineous Pakistani families. METHODS: Consanguineous families from Pakistan were ascertained to be affected with autosomal recessive retinal degeneration. All affected individuals unde...

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Detalles Bibliográficos
Autores principales: Li, David, Jin, Chongfei, Jiao, Xiaodong, Li, Lin, Bushra, Tahmina, Naeem, Muhammad Asif, Butt, Nadeem H., Husnain, Tayyab, Sieving, Paul A., Riazuddin, Sheikh, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888496/
https://www.ncbi.nlm.nih.gov/pubmed/24426771

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888496/
https://www.ncbi.nlm.nih.gov/pubmed/24426771

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