Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

PURPOSE: This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases. METHODS: Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affec...

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Detalles Bibliográficos
Autores principales: Jiaox, Xiaodong, Khan, Shahid Y., Irum, Bushra, Khan, Arif O., Wang, Qiwei, Kabir, Firoz, Khan, Asma A., Husnain, Tayyab, Akram, Javed, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581838/
https://www.ncbi.nlm.nih.gov/pubmed/26402864
http://dx.doi.org/10.1371/journal.pone.0137973

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581838/
https://www.ncbi.nlm.nih.gov/pubmed/26402864
http://dx.doi.org/10.1371/journal.pone.0137973

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