Ontology highlight
ABSTRACT:
SUBMITTER: Maasalu K
PROVIDER: S-EPMC4429824 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Maasalu Katre K Nikopensius Tiit T Kõks Sulev S Nõukas Margit M Kals Mart M Prans Ele E Zhytnik Lidiia L Metspalu Andres A Märtson Aare A
Human genomics 20150510
<h4>Background</h4>Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues present in the Gly-X-Y sequence repeats of the triple helical region of the collagen type I α chain, which is encoded by the COL1A1 gene. The aim of the present study is to describe the phenotype ...[more]