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Article

Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.

Chinese medical journal - 1 Jul 2012

Zhang Da, Lu Lin, Yang Hong-Bo, Li Mei, Sun Hao, Zeng Zheng-Pei, Li Xin-Ping, Xia Wei-Bo, Xing Xiao-Ping

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease, which is a disorder with multiple organ involvement, mainly the kidney and liver. It is caused by mutations in the PKHD1 gene. Here, we reported the clinical characteristics of a case with ARPKD and analyze the genetic features of this patient as well as of his father using targeted exome sequencing and Sanger...

Read the complete abstract on PubMed

Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polycystic Kidney, Autosomal Recessive

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Source

Identifiers

PMID: 22882926

Genes

PKHD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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