Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome

PURPOSE: To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. METHODS: A total of 16 Chinese probands with Stickler syndrome were recruited, including nine with a family history of an autosomal dom...

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Detalles Bibliográficos
Autores principales: Wang, Xun, Jia, Xiaoyun, Xiao, Xueshan, Li, Shiqiang, Li, Jie, Li, Yadi, Wei, Yantao, Liang, Xiaoling, Guo, Xiangming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4919091/
https://www.ncbi.nlm.nih.gov/pubmed/27390512

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