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Article

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

American journal of human genetics - 1 Feb 2001

Pei Y, Paterson A D, Wang K R, He N, Hefferton D, Watnick T, Germino G G, Parfrey P, Somlo S, St George-Hyslop P

Abstract excerpt

In searching for a putative third gene for autosomal dominant polycystic kidney disease (ADPKD), we studied the genetic inheritance of a large family (NFL10) previously excluded from linkage to both the PKD1 locus and the PKD2 locus. We screened 48 members of the NFL10 pedigree, by ultrasonography, and genotyped them, with informative markers, at both the PKD1 locus and the PKD2 locus. Twenty-eight of 48...

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Identifiers

PMID: 11156533
DOI: 10.1086/318188
PMCID: PMC1235269

Genes

PKD1
PKD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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