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Article

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Human mutation - 1 Feb 2009

Tan Ying-Cai, Blumenfeld Jon D, Anghel Raluca, Donahue Stephanie, Belenkaya Rimma, Balina Marina, Parker Thomas, Levine Daniel, Leonard Debra G B, Rennert Hanna

Abstract excerpt

Genetic testing of PKD1 and PKD2 is useful for diagnosis and prognosis of autosomal dominant polycystic kidney disease (ADPKD), particularly in asymptomatic individuals or those without a family history. PKD1 testing is complicated by the large transcript size, complexity of the gene region, and...

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Source

Identifiers

PMID: 18837007
DOI: 10.1002/humu.20842

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18837007-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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