Cargando…
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts
PURPOSE: We sought to identify the genetic defect in a large, five-generation Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts and to examine the clinical features in detail. METHODS: Clinical and ophthalmologic examinations were conducted on family member...
Autores principales: | Li, Fei-feng, Zhu, Si-quan, Wang, Shu-zhen, Gao, Chang, Huang, Shang-zhi, Zhang, Meng, Ma, Xu |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2335123/ https://www.ncbi.nlm.nih.gov/pubmed/18449377 |
Ejemplares similares
-
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
por: Yang, Juhua, et al.
Publicado: (2008) -
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract
por: Weisschuh, Nicole, et al.
Publicado: (2012) -
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus
por: Rao, Yan, et al.
Publicado: (2017) -
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
por: Zhou, Yu, et al.
Publicado: (2016) -
A Novel CRYBB2 Silent Variant in Autosomal Dominant Congenital Cataracts (ADCC) in Pakistani families
por: Hussain, Maryam, et al.
Publicado: (2023)