Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin
Studies of type I collagen (COL1A1) α1 chain in patients with osteogenesis imperfecta
✍ Scribed by D. D. Nadyrshina; R. I. Khusainova; E. K. Khusnutdinova
- Book ID
- 114990915
- Publisher
- SP MAIK Nauka/Interperiodica
- Year
- 2012
- Tongue
- English
- Weight
- 706 KB
- Volume
- 48
- Category
- Article
- ISSN
- 1022-7954
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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
Osteogenesis imperfecta (OI) type I is caused by a reduction of type I collagen resulting from the presence of a non-functional COL1A1 allele (null-allele). Owing to the lack of mutant mRNA, genomic screening of the COL1A1 and COL1A2 genes is required to identify a causal mutation, which is a costly