Cargando…
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma
PURPOSE: To screen ten genes for mutations in 32 Chinese patients with microphthalmia and/or coloboma. METHODS: Genomic DNA was prepared from 32 unrelated patients with microphthalmia (nine probands) and uveal coloboma (23 probands). Cycle sequencing was used to detect sequence variations in ten gen...
Autores principales: | Zhang, Xiaohui, Li, Shiqiang, Xiao, Xueshan, Jia, Xiaoyun, Wang, Panfeng, Shen, Huangxuan, Guo, Xiangming, Zhang, Qingjiong |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2009
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2802294/ https://www.ncbi.nlm.nih.gov/pubmed/20057906 |
Ejemplares similares
-
Mutation spectrum of PAX6 in Chinese patients with aniridia
por: Zhang, Xiaohui, et al.
Publicado: (2011) -
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
por: Xiao, Xueshan, et al.
Publicado: (2011) -
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
por: Yang, Mei, et al.
Publicado: (2009) -
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
por: Chen, Yabin, et al.
Publicado: (2013) -
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
por: Wang, Juan, et al.
Publicado: (2010)