Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

doi:10.1073/pnas.89.10.4583

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Article

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

Proceedings of the National Academy of Sciences of the United States of America - 15 May 1992

Horton W A, Machado M A, Ellard J, Campbell D, Bartley J, Ramirez F, Vitale E, Lee B

Abstract excerpt

A subtle mutation in the type II collagen gene COL2A1 was detected in a case of human hypochondrogenesis by using a chondrocyte culture system and PCR-cDNA scanning analysis. Chondrocytes obtained from cartilage biopsies were dedifferentiated and expanded in monolayer culture and then redifferent...

Topics

Alleles
Base Sequence
Cells, Cultured
Collagen
Collagen Diseases
DNA
Growth Plate
Humans
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Phenotype
Polymerase Chain Reaction
Procollagen
Proline

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Identifiers

PMID: 1374906
DOI: 10.1073/pnas.89.10.4583
PMCID: PMC49127

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1374906-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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