Á lódáil...
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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| Foilsithe in: | Eye (Lond) |
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| Main Authors: | , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Nature Publishing Group UK
2018
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| Ábhair: | |
| Rochtain Ar Líne: | 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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