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...
Topics
- Amino Acid Sequence
- Base Sequence
- Collagen
- Collagen Type IX
- Exons
- Genetic Testing
- Genetic Variation
- Genomic Library
- Heterozygote
- Humans
- Introns
- Models, Molecular
- Molecular Sequence Data