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Article

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

European journal of human genetics : EJHG - 1 Sept 2001

Bouba I, Koptides M, Mean R, Costi C E, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas C C

Abstract excerpt

The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1 : 1000 individuals of the Caucasian population. The main symptom is the formation of fluid-filled cysts in the kidneys, which grow progressively in size and number with age, and leading to end-stage renal failure in approximately 50% of patients by age 60. About 85%...

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Topics

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Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polycystic Kidney, Autosomal Dominant

Share to Polymorphism, Single-Stranded Conformational

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Share to Sequence Deletion

Share to Sequence Homology, Nucleic Acid

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Source

Identifiers

PMID: 11571556
DOI: 10.1038/sj.ejhg.5200696

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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