Cargando…
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts
PURPOSE: We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital coralliform cataracts and demonstrate the functional analysis of a candidate gene in the family. METHODS: Family history data were recorded. Clinical and ophthalmologic examinatio...
Autores principales: | Li, Feifeng, Wang, Shuzhen, Gao, Chang, Liu, Shiguo, Zhao, Baojian, Zhang, Meng, Huang, Shangzhi, Zhu, Siquan, Ma, Xu |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268897/ https://www.ncbi.nlm.nih.gov/pubmed/18334953 |
Ejemplares similares
-
A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families
por: Yang, Guoxing, et al.
Publicado: (2011) -
Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene
por: Wang, Kai-Jie, et al.
Publicado: (2023) -
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families
por: Khan, Arif O., et al.
Publicado: (2009) -
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
por: Santana, Alessandro, et al.
Publicado: (2009) -
A novel human CRYGD mutation in a juvenile autosomal dominant cataract
por: Roshan, Mascarenhas, et al.
Publicado: (2010)