The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.

doi:10.1016/0092-8674(94)90137-6

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Article

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.

Cell - 17 Jun 1994

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal failure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3. We identified a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in the PKD1 candidate region. Further mutations of the PBP gene were found in PKD1 patients, two...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Cells, Cultured
Chromosome Mapping
Chromosomes, Human, Pair 16
DNA
Female
Humans
Hybrid Cells
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Multigene Family

Mutation

Pedigree

Polycystic Kidney, Autosomal Dominant

Source

Open in PubMed

Identifiers

PMID: 8004675
DOI: 10.1016/0092-8674(94)90137-6

Genes

PKD1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.PMID 8004675Read ↗

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