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Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease

BACKGROUND: Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5. Diagnosis of these conditions can be hindered by variable penetrance and the presence of non-specific clinical or pathol...

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Detalles Bibliográficos
Autores principales:	Lin, Fujun, Bian, Fan, Zou, Jun, Wu, Xiangru, Shan, Jianping, Lu, Wei, Yao, Yao, Jiang, Gengru, Gale, Daniel Philip
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4233041/ https://www.ncbi.nlm.nih.gov/pubmed/25381091 http://dx.doi.org/10.1186/1471-2369-15-175

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