Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.

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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Bibliographic Details
Main Authors:	Xiwei Hao, Shiguo Liu, Qian Dong, Hong Zhang, Jing Zhao, Lin Su
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2014-01-01
Series:	PLoS ONE
Online Access:	http://europepmc.org/articles/PMC3977808?pdf=render

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