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| Trovó,Alessandra B.; Goloni-Bertollo,Eny M.; Mancini,Ulises M.; Rahal,Paula; Azevedo Jr.,Walter F. de; Tajara,Eloiza H.. |
| 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. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gene NF1; GRD; Neurofibromatosis type 1; Mutations; Polymorphisms. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003 |
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