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Article

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Journal of the American Society of Nephrology : JASN - 1 Jul 2007

Rossetti Sandro, Consugar Mark B, Chapman Arlene B, Torres Vicente E, Guay-Woodford Lisa M, Grantham Jared J, Bennett William M, Meyers Catherine M, Walker Denise L, Bae Kyongtae, Zhang Qin Jean, Thompson Paul A, Miller J Philip, Harris Peter C

Abstract excerpt

Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, duplication of PKD1, and a high level of unclassified variants (UCV). Present mutation detection levels are 60 to 70%, and PKD1 and PKD2 UCV have not been systematically classified. This study analyzed the uniquely characterized Consortium for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Molecular Diagnostic Techniques

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Share to Polycystic Kidney, Autosomal Dominant

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 17582161
DOI: 10.1681/ASN.2006121387

Genes

PKD1
PKD2

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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