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A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract
PURPOSE: To examine the mechanism by which a novel connexin 50 (Cx50) mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts. METHODS: Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-ca...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4269439/ https://www.ncbi.nlm.nih.gov/pubmed/25517998 http://dx.doi.org/10.1371/journal.pone.0115406 |