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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Genetics Society of America
2014
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Materias: | |
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 |