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Article

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.

Journal of the American Society of Nephrology : JASN - 1 May 2001

Phakdeekitcharoen Bunyong, Watnick Terry J, Germino Gregory G

Abstract excerpt

The replicated portion of PKD1, which comprises nearly 70% of the length of the gene, is predicted to harbor at least 85% of the mutations present in affected autosomal dominant polycystic kidney disease type 1 pedigrees. The relative paucity of reported mutations involving this segment is attributable to the significant technical challenges posed by the genomic structure of the gene. Previous genomic DNA-based...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11316854
DOI: 10.1681/ASN.V125955

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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