Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family

PURPOSE: To describe the first cataract-causing recessive mutation in the crystalline, alpha-b gene CRYAB. METHODS: Homozygosity mapping complemented by linkage analysis was performed in a family with autosomal recessive juvenile cataract. RESULTS: A homozygous missense mutation in CRYAB was identif...

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Detalles Bibliográficos
Autores principales: Safieh, L Abu, Khan, AO, Alkuraya, FS
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684560/
https://www.ncbi.nlm.nih.gov/pubmed/19461931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684560/
https://www.ncbi.nlm.nih.gov/pubmed/19461931

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