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Article

Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia.

Matrix biology : journal of the International Society for Matrix Biology - 1 May 2000

Spayde E C, Joshi A P, Wilcox W R, Briggs M, Cohn D H, Olsen B R

Abstract excerpt

Previous linkage analysis (Briggs, M.D., Choi, H.-C., Warman, M.L. et al., 1994. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM 2) to a region of chromosome 1 containing a type IX collagen gene. Am. J. Hum. Genet. 55, 678-684) in a large English family with multiple epiphyseal dysplasia established the EDM2 locus, a region of chromosome 1 containing the COL9A2 collagen gene. We now report that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10842095
DOI: 10.1016/s0945-053x(00)00055-x

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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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