Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family

PURPOSE: To identify genetic defects in a Chinese family with ectopia lentis (EL) and varicose great saphenous vein (GSV) and to analyze the correlations between phenotype and genotype. METHODS: Twenty-two (12 affected subjects and ten unaffected subjects) among 53 members of a Chinese family underw...

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Detalles Bibliográficos
Autores principales: Fu, Qing, Liu, Peng, Lu, Qingsheng, Wang, Feng, Wang, Hui, Shen, Wei, Xu, Fei, Liu, Lin, Sergeev, Yuri V., Sui, Ruifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057249/
https://www.ncbi.nlm.nih.gov/pubmed/24940037

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