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Background
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COL1A1 is the major component of type I collagen, and the sole component of the collagen located in cartilage. COL1A1 mutations are associated with osteogenesis imperfecta type I, II, III, and IV, Ehlers-Danlos syndrome type I and II, and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a skin tumor called dermatofibrosarcoma protuberans. Two COL1A1 transcripts arise from variant polyadenylation signals for this gene.
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Background
References
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- Sandberg, A.A., et al., Cancer Genet. Cytogenet. 142(1):56-59 (2003).
- Nuytinck, L., et al., Am. J. Hum. Genet. 66(4):1398-1402 (2000).
- Sarafova, A.P., et al., Hum. Mutat. 11(5):395-403 (1998).
- Mottes, M., et al., Hum. Mutat. 12(1):71-72 (1998).
- Lund, A.M., et al., Hum. Mutat. 9(5):431-436 (1997).
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