A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta
β Scribed by Fuccio, Antonella; Iorio, Mariangela; Amato, Felice; Elce, Ausilia; Ingino, Rosaria; Filocamo, Mirella; Castaldo, Giuseppe; Salvatore, Francesco; Tomaiuolo, Rossella
- Book ID
- 121764408
- Publisher
- American Society for Investigative Pathology
- Year
- 2011
- Tongue
- English
- Weight
- 613 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1525-1578
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π SIMILAR VOLUMES
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) 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