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Article

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban - 1 Oct 2016

Tong Yong-Qing, Liu Bei, Fu Chao-Hong, Zheng Hong-Yun, Gu Jian, Liu Hang, Luo Hong-Bo, Li Yan

Abstract excerpt

PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1 by directly sequencing. In this study, the entire PKHD1...

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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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Share to Receptors, Cell Surface

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Source

Identifiers

PMID: 27752906
DOI: 10.1007/s11596-016-1658-8

Genes

PKHD1

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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