Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0493-323.pdf
Reference24 articles.
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3. Vissing, H. et al. Glycine to serine substitution in the triple helical domain of pro-α1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. J. Biol. Chem. 264, 18265–18267 (1989).
4. Ala-Kokko, L., Baldwin, C.T., Moskowitz, R.W. & Prockop, D.J. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with mild chondrodysplasia. Proc. natn. Acad. Sci. U.S.A. 87, 6565–6568 (1990).
5. Tiller, G.E., Rimoin, D.L., Murray, L.W. & Cohn, D.H. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc. natn. Acad. Sci. U.S.A. 87, 3889–3893 (1990).
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