| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
|
| País: |
Brazil
|
| Título: |
Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
|
| Autores: |
Trovó,Alessandra B.
Goloni-Bertollo,Eny M.
Mancini,Ulises M.
Rahal,Paula
Azevedo Jr.,Walter F. de
Tajara,Eloiza H.
|
| Data: |
2004-01-01
|
| Ano: |
2004
|
| Palavras-chave: |
Gene NF1
GRD
Neurofibromatosis type 1
Mutations
Polymorphisms
|
| Resumo: |
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
|
| Idioma: |
Inglês
|
| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003
|
| Editor: |
Sociedade Brasileira de Genética
|
| Relação: |
10.1590/S1415-47572004000300003
|
| Formato: |
text/html
|
| Fonte: |
Genetics and Molecular Biology v.27 n.3 2004
|
| Direitos: |
info:eu-repo/semantics/openAccess
|
