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A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

Congenital cataracts are a significant cause of visual impairment or blindness in children. One-third of cases estimated to have a genetic cause. We carried out gene analysis and bioinformatics analysis to map the locus and to identify the underlying genetic defect in a 12-member, four-generation Ch...

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Detalles Bibliográficos
Autores principales:	Lv, Huibin, Huang, Chen, Zhang, Jing, Liu, Ziyuan, Zhang, Zhike, Xu, Haining, You, Yuchen, Hu, Jinping, Li, Xuemin, Wang, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Genetics Society of America 2014
Materias:	Investigations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4025481/ https://www.ncbi.nlm.nih.gov/pubmed/24637349 http://dx.doi.org/10.1534/g3.113.009860

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