Article
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Human mutation - 1 Jul 2006
Pollitt Rebecca, McMahon Robert, Nunn Janice, Bamford Robert, Afifi Amal, Bishop Nicholas, Dalton Ann
Abstract excerpt
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 clinical diagnosis of OI type I-IV have a mutation in the COL1A1 or COL1A2 genes which encode the two alpha chains of...
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- Base Sequence
- Cohort Studies
- Collagen
- Collagen Type I
- Collagen Type I, alpha 1 Chain
- DNA Mutational Analysis