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Article

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.

BMC nephrology - 1 Mar 2015

Ali Hamad, Hussain Naser, Naim Medhat, Zayed Mohamed, Al-Mulla Fahd, Kehinde Elijah O, Seaburg Lauren M, Sundsbak Jamie L, Harris Peter C

Abstract excerpt

BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progr...

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Source

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Identifiers

PMID: 25880449
DOI: 10.1186/s12882-015-0015-7
PMCID: PMC4357204

Genes

PKD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25880449-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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