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Article

[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016

Xiang Yanbao, Li Huanzheng, Xu Chenyang, Dong Xueqin, Xu Xueqin, Chen Chong, Tang Shaohua

Abstract excerpt

OBJECTIVE: To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD). METHODS: Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT...

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Source

Identifiers

PMID: 27577217
DOI: 10.3760/cma.j.issn.1003-9406.2016.05.018

Genes

PKHD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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