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Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract

Pediatric cataract is clinically and genetically heterogeneous and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with autosomal dominant congenital cataract, using whole ex...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Berry, Vanita, Ionides, Alex, Pontikos, Nikolas, Moghul, Ismail, Moore, Anthony T., Quinlan, Roy A., Michaelides, Michel
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7288463/
https://ncbi.nlm.nih.gov/pubmed/32384692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11050512
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