Whole Exome Sequencing in Dominant Cataract Identifies a New Causative Factor, CRYBA2, and a Variety of Novel Alleles in Known Genes

Pediatric cataracts are observed in 1–15 per 10,000 births with 10–25% of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) w...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3683360/
https://ncbi.nlm.nih.gov/pubmed/23508780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1289-0
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