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Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease

BACKGROUND: Mutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established. METHODS: Who...

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Detalles Bibliográficos
Autores principales:	Hao, Xiwei, Liu, Shiguo, Dong, Qian, Zhang, Hong, Zhao, Jing, Su, Lin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977808/ https://www.ncbi.nlm.nih.gov/pubmed/24710345 http://dx.doi.org/10.1371/journal.pone.0092661

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