An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree

PURPOSE: To identify the gene mutation underlying Avellino corneal dystrophy in a four-generation Chinese pedigree. METHODS: Patients from the affected family underwent detailed clinical examination involving slit-lamp photography and confocal microscopy. Genomic DNA extracted from peripheral leukoc...

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Hlavní autoři: Gu, Zhensheng, Zhao, Peiquan, He, Guang, Wan, Chunling, Ma, Gang, Yu, Ling, Zhang, Juan, Feng, Guoyin, He, Lin, Gao, Linghan
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2011
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3244477/
https://ncbi.nlm.nih.gov/pubmed/22194646
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