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...

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Detalles Bibliográficos
Autores principales: Lin, Meina, Jin, Ying, Chen, Xinren, Sui, Yu, Li, Yan, Li, Huan, Ni, Xiang, Zhao, Ning, Lu, Yongping, Jiang, Miao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
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

Internet

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

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