Cargando…
A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea
PURPOSE: Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the CRYGC gene have been identified. We present the location of a new mutation in CRYGC in members of a Chinese family who presented with CCs with or without microcornea. DESI...
Autores principales: | Zhou, Zhenbao, Zhao, Liying, Guo, Yanqin, Zhuang, Jingyi, Zhuo, Nan, Chen, Han, Liu, Jieting, Wang, Libo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9560566/ https://www.ncbi.nlm.nih.gov/pubmed/36246175 http://dx.doi.org/10.1016/j.xops.2021.100093 |
Ejemplares similares
-
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
por: Zhang, Lu, et al.
Publicado: (2009) -
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree
por: Guo, Yuanyuan, et al.
Publicado: (2012) -
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
por: Santana, Alessandro, et al.
Publicado: (2009) -
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
por: Lin, Zhi-Bo, et al.
Publicado: (2022) -
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
por: Yao, Ke, et al.
Publicado: (2008)