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Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis, Linda M; Tyler, Rebecca C; Muheisen, Sanaa; Raggio, Victor; Salviati, Leonardo; Han, Dennis P; Costakos, Deborah; Yonath, Hagith; Hall, Sarah; Power, Patricia; Semina, Elena V.
Affiliation
  • Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Hum Genet ; 132(7): 761-70, 2013 Jul.
Article in En | MEDLINE | ID: mdl-23508780
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Full text: 1 Database: MEDLINE Main subject: Cataract / Mutation, Missense / Beta-Crystallin A Chain / Alleles / Exome / Genes, Dominant / Genetic Diseases, Inborn Type of study: Prognostic_studies Limits: Adult / Animals / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Hum Genet Year: 2013 Type: Article Affiliation country: United States
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Full text: 1 Database: MEDLINE Main subject: Cataract / Mutation, Missense / Beta-Crystallin A Chain / Alleles / Exome / Genes, Dominant / Genetic Diseases, Inborn Type of study: Prognostic_studies Limits: Adult / Animals / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Hum Genet Year: 2013 Type: Article Affiliation country: United States