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: godfrey m.
J Biol Chem. 1989 Nov 5;264(31):18265-7.
J Biol Chem. 1989.
PMID: 2572591
Free article.
Previous biochemical studies on cartilage tissue from a proband with Type II achondrogenesis-hypochondrogenesis (Godfrey, M., and Hollister, D. W. (1988) Am. J. Hum. Genet. 43, 904-913) indicated heterozygosity for a structural abnormality in the triple helical doma …
Previous biochemical studies on cartilage tissue from a proband with Type II achondrogenesis-hypochondrogenesis (Godfrey, M., …