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Article

A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.

Gene - 25 Apr 2015

Tavira Beatriz, Gómez Juan, Málaga Serafín, Santos Fernando, Fernández-Aracama Javier, Alonso Belén, Iglesias Sara, Benavides Ana, Hernando Inés, Plasencia Ana, Alvarez Victoria, Coto Eliecer

Abstract excerpt

The Sanger sequencing of patients with recessive polycystic kidney disease is challenging due to the length and heterogeneous mutational spectrum of the PKHD1 gene. Next generation sequencing (NGS) might thus be of special interest to search for PKHD1 mutations. The study involved a total of 22 patients with autosomal recessive polycystic kidney disease (ARPKD) and 8 parents of non-available ARPKD patients. Five...

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Identifiers

PMID: 25701400
DOI: 10.1016/j.gene.2015.02.040

Genes

PKHD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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