Ontology highlight
ABSTRACT:
SUBMITTER: Lin HY
PROVIDER: S-EPMC4666204 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Lin Hsiang-Yu HY Chuang Chih-Kuang CK Su Yi-Ning YN Chen Ming-Ren MR Chiu Hui-Chin HC Niu Dau-Ming DM Lin Shuan-Pei SP
Orphanet journal of rare diseases 20151201
<h4>Background</h4>Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass.<h4>Methods</h4>The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features of these patients were also recorded.<h4>Results</h4>Thirty-seven COL1A1 and COL1A2 mutations were identified, including 28 COL1A ...[more]