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A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family
OBJECTIVE: To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. METHODS: A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagg...
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| Publicado en: | PLoS One |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Public Library of Science
2015
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4493073/ https://ncbi.nlm.nih.gov/pubmed/26147294 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0131471 |
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