Data/hora: 04/06/2024 01:36:34

Provedor de dados: 	74	
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&gt;A). One novel polymorphism (c.4514+11C&gt;G) and other three putative polymorphisms were also found (c.3315-27G&gt;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	
Fonte: 	info:eu-repo/semantics/openAccess