Molecular Findings In Brazilian Patients With Osteogenesis Imperfecta.

dc.creatorReis, Fernanda C
dc.creatorAlexandrino, Fabiana
dc.creatorSteiner, Carlos E
dc.creatorNorato, Denise Y J
dc.creatorCavalcanti, Denise P
dc.creatorSartorato, Edi L
dc.date2005
dc.date2015-11-27T13:02:49Z
dc.date2015-11-27T13:02:49Z
dc.date.accessioned2018-03-29T01:02:10Z
dc.date.available2018-03-29T01:02:10Z
dc.identifierJournal Of Applied Genetics. v. 46, n. 1, p. 105-8, 2005.
dc.identifier1234-1983
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/15741671
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/196603
dc.identifier15741671
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1296836
dc.descriptionOsteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the a chains of type I procollagen, the major protein in bones. Hence, the aim of the present study was to identify mutations in the COL1A1 gene in 13 unrelated Brazilian OI patients. This is the first molecular study of OI in Brazil. We found 6 mutations, 4 of them novel (c.1885delG, p.P239A, p.G592S, p.G649D) and 2 previously described (p.R237X and p.G382S). Thus, the findings show that there are no prevalent mutations in our sample, and that their distribution is similar to that reported by other authors, with preponderance of substitutions for glycine in the triple helix domain, causing OI types II, III and IV.
dc.description46
dc.description105-8
dc.languageeng
dc.relationJournal Of Applied Genetics
dc.relationJ. Appl. Genet.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectBrazil
dc.subjectCollagen
dc.subjectHumans
dc.subjectMutation
dc.subjectOsteogenesis Imperfecta
dc.titleMolecular Findings In Brazilian Patients With Osteogenesis Imperfecta.
dc.typeArtículos de revistas


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