Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients

Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients

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 diff...

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Bibliographic Details
Main Authors: Alessandra B. Trovó, Eny M. Goloni-Bertollo, Ulises M. Mancini, Paula Rahal, Walter F. de Azevedo Jr., Eloiza H. Tajara
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2004-01-01
Series:Genetics and Molecular Biology
Subjects:
gene NF1
GRD
neurofibromatosis type 1
mutations
polymorphisms
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003

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