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A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus
PURPOSE: To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible molecular mechanism underlying the role of the candidate genes in cataractogenesis. METHODS: We combined the linkage analysis a...
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| Publicado no: | Mol Vis |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5595272/ https://ncbi.nlm.nih.gov/pubmed/28928627 |
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