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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Vydáno v:Mol Vis
Hlavní autoři: Wang, Xun, Jia, Xiaoyun, Xiao, Xueshan, Li, Shiqiang, Li, Jie, Li, Yadi, Wei, Yantao, Liang, Xiaoling, Guo, Xiangming
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2016
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4919091/
https://ncbi.nlm.nih.gov/pubmed/27390512
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