A Nonsense Mutation of γD-crystallin Associated with Congenital Nuclear and Posterior Polar Cataract in a Chinese Family

Objective: The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts. Methods: Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples wer...

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Detalles Bibliográficos
Autores principales: Zhai, Yi, Li, Jinyu, Zhu, Yanan, Xia, Yan, Wang, Wei, Yu, Yinhui, Yao, Ke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3894400/
https://www.ncbi.nlm.nih.gov/pubmed/24465161
http://dx.doi.org/10.7150/ijms.7567

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3894400/
https://www.ncbi.nlm.nih.gov/pubmed/24465161
http://dx.doi.org/10.7150/ijms.7567

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