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.
J Biol Chem. 1989 Nov 5;264(31):18265-7.
J Biol Chem. 1989.
PMID: 2572591
Free article.
These findings confirm the proposal that new dominant mutations in the type II procollagen gene may account for some cases of Type II achondrogenesis-hypochondrogenesis. Since recent studies (Lee, B., Vissing, H., Ramirez, F., Rogers, D., and Rimoin, D. (1989) Scien …
These findings confirm the proposal that new dominant mutations in the type II procollagen gene may account for some cases of Type II achond …