Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.

doi:10.1681/ASN.2015050583

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Article

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Society of Nephrology : JASN - 1 Sept 2016

Heyer Christina M, Sundsbak Jamie L, Abebe Kaleab Z, Chapman Arlene B, Torres Vicente E, Grantham Jared J, Bae Kyongtae T, Schrier Robert W, Perrone Ronald D, Braun William E, Steinman Theodore I, Mrug Michal, Yu Alan S L, Brosnahan Godela, Hopp Katharina, Irazabal Maria V, Bennett William M, Flessner Michael F, Moore Charity G, Landsittel Douglas, Harris Peter C

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) often results in ESRD but with a highly variable course. Mutations to PKD1 or PKD2 cause ADPKD; both loci have high levels of allelic heterogeneity. We evaluated genotype-phenotype correlations in 1119 patients (945 families) from the HALT Progression of PKD Study and the Consortium of Radiologic Imaging Study of PKD Study. The population was defined as: 77.7%...

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Identifiers

PMID: 26823553
DOI: 10.1681/ASN.2015050583
PMCID: PMC5004648

Genes

PKD1
PKD2

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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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