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Congenital cataracts: de novo gene conversion event in CRYBB2

PURPOSE: To identify the cause of congenital cataracts in a consanguineous family of Ashkenazi Jewish ancestry. METHODS: We performed genome-wide linkage analysis and whole-exome sequencing for the initial discovery of variants, and we confirmed the variants using gene-specific primers and Sanger se...

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Detalles Bibliográficos
Autores principales:	Garnai, Sarah J., Huyghe, Jeroen R., Reed, David M., Scott, Kathleen M., Liebmann, Jeffrey M., Boehnke, Michael, Richards, Julia E., Ritch, Robert, Pawar, Hemant
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225141/ https://www.ncbi.nlm.nih.gov/pubmed/25489230

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