OSTEOGENESIS IMPERFECTS PHENOTYPES RESULTING FROM SERINE FOR GLYCINE SUBSTITUTIONS IN THE ALPHA-2(I) COLLAGEN CHAIN

Authors
NUYTINCK L WETTINCK K FREUND M VANMALDERGEM L FABRY G DEPAEPE A
Citation
L. Nuytinck et al., OSTEOGENESIS IMPERFECTS PHENOTYPES RESULTING FROM SERINE FOR GLYCINE SUBSTITUTIONS IN THE ALPHA-2(I) COLLAGEN CHAIN, European journal of human genetics, 5(3), 1997, pp. 161-167
Citations number
21
Categorie Soggetti
Biology,"Genetics & Heredity
Journal title
European journal of human genetics → ACNP
ISSN journal
10184813
Volume
5
Issue
3
Year of publication
1997
Pages
161 - 167
Database
ISI
SICI code
1018-4813(1997)5:3<161:OIPRFS>2.0.ZU;2-S
Abstract
Clinical and biochemical findings in 5 unrelated patients with osteoge nesis imperfecta (OI) with a serine for glycine substitution in the al pha 2(I) collagen chain are presented, The data are compared to other serine substitutions in collagen type I. Findings show that the phenot ypic severity of serine for glycine substitutions in the alpha 2(I) co llagen chain is region dependent similar to the observations for the a lpha 1(I) collagen chain, and that so-called 'lethal' and 'non-lethal' domains in the alpha 1 and alpha 2 collagen chains do not necessarily correspond.