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Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family
OBJECTIVE: This study aimed to identify the disease‐causing mutation of congenital cataract disease in a large northeastern Chinese family. MATERIALS AND METHODS: The subjects’ peripheral blood was collected, their genomic DNA was extracted, mutation screening of candidate genes was performed using...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549552/ https://www.ncbi.nlm.nih.gov/pubmed/33460241 http://dx.doi.org/10.1002/mgg3.1436 |