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Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

PURPOSE: Congenital cataract, opacification of the ocular lens, is clinically and genetically a heterogeneous childhood disease. In this study we aimed to identify the underlying genetic cause of isolated autosomal-dominant lamellar cataract in a multi-generation English family. METHODS: Whole-genom...

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Bibliografski detalji
Izdano u:Eye (Lond)
Glavni autori: Berry, Vanita, Ionides, Alexander C. W., Pontikos, Nikolas, Moghul, Ismail, Moore, Anthony T., Cheetham, Michael E., Michaelides, Michel
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2018
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6189195/
https://ncbi.nlm.nih.gov/pubmed/29934635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-018-0154-8
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