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Article

Novel mutations in the duplicated region of PKD1 gene.

European journal of human genetics : EJHG - 1 May 2000

Perrichot R, Mercier B, Quere I, Carre A, Simon P, Whebe B, Cledes J, Ferec C

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) exhibits a genetically heterogeneous transmission involving at least three different genes. PKD1 gene linked mutations are responsible for the disease in about 85% of ADPKD cases. The search for mutations is a very important step in understandi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10854095
DOI: 10.1038/sj.ejhg.5200459

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10854095-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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