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Article

Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants.

The Journal of biological chemistry - 6 Aug 1999

Paassilta P, Pihlajamaa T, Annunen S, Brewton R G, Wood B M, Johnson C C, Liu J, Gong Y, Warman M L, Prockop D J, Mayne R, Ala-Kokko L

Abstract excerpt

We report the complete sequence of the human COL9A3 gene that encodes the alpha3 chain of heterotrimeric type IX collagen, a member of the fibril-associated collagens with interrupted triple helices family of collagenous proteins. Nucleotide sequencing defined over 23,000 base pairs (bp) of the gene and about 3000 bp of the 5'-flanking sequences. The gene contains 32 exons. The domain and exon organization of the...

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Identifiers

PMID: 10428822
DOI: 10.1074/jbc.274.32.22469

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants.PMID 10428822Read ↗

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A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathySemantic proximity Read ↗

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