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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 redifferentiated by culture over agarose. Single-strand conformation polymorphism and direct sequencing analysis identified a...

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Identifiers

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

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Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.PMID 1374906Read ↗

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