Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorTrovó, Alessandra B.
dc.creatorGoloni-Bertollo, Eny M.
dc.creatorMancini, Ulises M.
dc.creatorRahal, Paula
dc.creatorAzevedo Jr., Walter F. de
dc.creatorTajara, Eloiza H.
dc.date2014-05-20T14:00:44Z
dc.date2014-05-20T14:00:44Z
dc.date2004-01-01
dc.date.accessioned2017-04-05T21:23:43Z
dc.date.available2017-04-05T21:23:43Z
dc.identifierGenetics and Molecular Biology. Sociedade Brasileira de Genética, v. 27, n. 3, p. 326-330, 2004.
dc.identifier1415-4757
dc.identifierhttp://hdl.handle.net/11449/21459
dc.identifier10.1590/S1415-47572004000300003
dc.identifierS1415-47572004000300003
dc.identifierS1415-47572004000300003.pdf
dc.identifierhttp://dx.doi.org/10.1590/S1415-47572004000300003
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/867021
dc.descriptionNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they comprise one nonsense substitution (Q1189X), one deletion (3525-3526delAA), one missense substitution (E1356G) and one mutation in the splice acceptor site (c.4111-1G>A). One novel polymorphism (c.4514+11C>G) and other three putative polymorphisms were also found (c.3315-27G>A, V1146I and V1317A). Genotype-phenotype correlations were investigated, but no particular association was detected.
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.languageeng
dc.publisherSociedade Brasileira de Genética
dc.relationGenetics and Molecular Biology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectgene NF1
dc.subjectGRD
dc.subjectNeurofibromatosis type 1
dc.subjectMutations
dc.subjectPolymorphism
dc.titleMutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
dc.typeOtro


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