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Article

Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.

Arthritis and rheumatism - 1 Jul 1995

Ritvaniemi P, Körkkö J, Bonaventure J, Vikkula M, Hyland J, Paassilta P, Kaitila I, Kääriäinen H, Sokolov B P, Hakala M

Abstract excerpt

OBJECTIVE: To use a recently developed procedure for analysis of blood leukocyte DNA to detect mutations in the gene for type II procollagen (COL2A1) in patients with cartilage diseases ranging from early-onset familial osteoarthritis (OA) to lethal chondrodysplasias. METHODS: The technique of denaturing gradient gel electrophoresis was used to scan polymerase chain reaction (PCR) products from 45 exons and...

Topics

Cartilage, Articular
Chondrodysplasia Punctata
DNA
Humans
Leukocytes
Mutation
Osteoarthritis
Polymerase Chain Reaction
Polymorphism, Genetic
Procollagen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7612049
DOI: 10.1002/art.1780380717

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7612049-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.PMID 7612049Read ↗

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