Modifier genes play a significant role in the phenotypic expression of PKD1.

doi:10.1111/j.1523-1755.2005.00203.x

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Article

Modifier genes play a significant role in the phenotypic expression of PKD1.

Kidney international - 1 Apr 2005

Fain Pamela R, McFann Kimberly K, Taylor Matthew R G, Tison Maryellyn, Johnson Ann M, Reed Berenice, Schrier Robert W

Abstract excerpt

BACKGROUND: Polycystic kidney disease type 1 (PKD1) is characterized by extreme variation in the severity and progression of renal and extrarenal phenotypes. There are significant familial phenotype differences; but it is not clear if this is due to differences in PKD1 mutations, differences in genetic background, or both. METHODS: A total of 315 affected relatives (83 PKD1 families) without end-stage renal...

Topics

Adult
Age of Onset
Aged
Aged, 80 and over
Analysis of Variance
Chromosome Mapping
Creatinine
Genetic Markers
Humans
Kidney Failure, Chronic
Longitudinal Studies
Membrane Proteins
Middle Aged
Phenotype
Polycystic Kidney Diseases

Source

Open in PubMed

Identifiers

PMID: 15780078
DOI: 10.1111/j.1523-1755.2005.00203.x

Genes

PKD1

Provenance

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Survival Analysis