๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta

โœ Scribed by Zhenping Xu; Yulei Li; Xiangyang Zhang; Fanming Zeng; Mingxiong Yuan; Mugen Liu; Qing Kenneth Wang; Jing Yu Liu

Book ID
119297429
Publisher
Elsevier
Year
2011
Tongue
Chinese
Weight
880 KB
Volume
38
Category
Article
ISSN
1673-8527

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Thirty-three novel COL1A1 and COL1A2 mut
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV
โœ L.M. Ward; L. Lalic; P.J. Roughley; F.H. Glorieux ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 26 KB

Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in t