Trovó, Alessandra B. [UNESP]Goloni-Bertollo, Eny M.Mancini, Ulises M. [UNESP]Rahal, Paula [UNESP]Azevedo Jr., Walter F. de [UNESP]Tajara, Eloiza H. [UNESP]2014-05-202014-05-202004-01-01Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 27, n. 3, p. 326-330, 2004.1415-4757http://hdl.handle.net/11449/21459Neurofibromatosis 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.326-330enggene NF1GRDNeurofibromatosis type 1MutationsPolymorphismArtigo10.1590/S1415-47572004000300003S1415-47572004000300003Acesso abertoS1415-47572004000300003.pdf79910823626712120000-0001-5693-6148