A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

BACKGROUND: To identify the genetic defects and investigate the possible mechanism of cataract genesis in a five-generation family with autosomal dominant congenital posterior polar cataracts. METHODS: Clinical data were collected, and the lens phenotypes of the affected members in this family were...

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Detalles Bibliográficos
Autores principales: Xia, Xin-Yi, Wu, Qiu-Yue, An, Li-Mei, Li, Wei-Wei, Li, Na, Li, Tian-Fu, Zhang, Cui, Cui, Ying-Xia, Li, Xiao-Jun, Xue, Chun-Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169818/
https://www.ncbi.nlm.nih.gov/pubmed/25195561
http://dx.doi.org/10.1186/1471-2415-14-108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169818/
https://www.ncbi.nlm.nih.gov/pubmed/25195561
http://dx.doi.org/10.1186/1471-2415-14-108

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