dc.contributor | Universidade Estadual Paulista (Unesp) | |
dc.contributor | Faculdade de Medicina de São José do Rio Preto (FAMERP) | |
dc.date.accessioned | 2014-05-20T14:00:44Z | |
dc.date.accessioned | 2022-10-05T14:46:21Z | |
dc.date.available | 2014-05-20T14:00:44Z | |
dc.date.available | 2022-10-05T14:46:21Z | |
dc.date.created | 2014-05-20T14:00:44Z | |
dc.date.issued | 2004-01-01 | |
dc.identifier | Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 27, n. 3, p. 326-330, 2004. | |
dc.identifier | 1415-4757 | |
dc.identifier | http://hdl.handle.net/11449/21459 | |
dc.identifier | 10.1590/S1415-47572004000300003 | |
dc.identifier | S1415-47572004000300003 | |
dc.identifier | S1415-47572004000300003.pdf | |
dc.identifier | 7991082362671212 | |
dc.identifier | 0000-0001-5693-6148 | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/3895238 | |
dc.description.abstract | Neurofibromatosis 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.language | eng | |
dc.publisher | Sociedade Brasileira de Genética | |
dc.relation | Genetics and Molecular Biology | |
dc.relation | 1.493 | |
dc.relation | 0,638 | |
dc.rights | Acesso aberto | |
dc.source | SciELO | |
dc.subject | gene NF1 | |
dc.subject | GRD | |
dc.subject | Neurofibromatosis type 1 | |
dc.subject | Mutations | |
dc.subject | Polymorphism | |
dc.title | Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients | |
dc.type | Artigo | |