Article
[Molecular diagnosis of osteogenesis imperfecta type I].
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego - 1 Oct 2008
Galicka Anna, Bielawski Tomasz, Gindzieński Andrzej, Sredzińska Krystyna
Abstract excerpt
UNLABELLED: Osteogenesis imperfecta (OI) is caused by mutations in collagen type I genes. In contrast to OI type II, III and IV where there are the structural mutations, in OI type I decreased production of normal collagen is due to the presence of a null allele. Because both pharmacological and gene therapy approaches depend on type of mutation and its consequences, quick and proper diagnosis is required. AIM OF...
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