Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
Vissing H, D'Alessio M, Lee B, Ramirez F, Godfrey M, Hollister DW.
Vissing H, et al. Among authors: ramirez f.
J Biol Chem. 1989 Nov 5;264(31):18265-7.
J Biol Chem. 1989.
PMID: 2572591
Free article.
Since recent studies (Lee, B., Vissing, H., Ramirez, F., Rogers, D., and Rimoin, D. (1989) Science 244, 978-980) have identified a dominantly inherited type II procollagen gene deletion in a non-lethal form of skeletal dysplasia, namely spondyloepiphyseal dysplasia, …
Since recent studies (Lee, B., Vissing, H., Ramirez, F., Rogers, D., and Rimoin, D. (1989) Science 244, 978-980) have identifi …