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Article

Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

Clinical genetics - 1 Aug 2002

Eo H-S, Lee J G, Ahn C, Cho J T, Hwang D Y, Hwang Y H, Lee E J, Kim Y S, Han J S, Kim S, Lee J S, Jeoung D I, Lee S E, Kim U K

Abstract excerpt

Mutations at the PKD1 locus account for 85% of cases of the common genetic disorder called autosomal dominant polycystic kidney disease (ADPKD). Screening for mutations of the PKD1 gene is complicated by the genomic structure of the 5'-duplicated region encoding 75% of the gene. To date, more than 90 mutations of the PKD1 gene have been reported in the European and American populations, and relatively little...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12220456
DOI: 10.1034/j.1399-0004.2002.620211.x

Genes

PKD1

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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