Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia

Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA pat...

Full description

Bibliographic Details
Main Authors: David Enrique Aguilar Rodriguez, Carmen Silvia Passos Lima, Gustavo Jacob Lourenço, Maria Estela Figueiredo, Jorge David Aivazoglu Carneiro, Luiz Gonzaga Tone, Juan Clinton Llerena Jr., Raquel Alves Toscano, Silvia Brandalise, Walter Pinto Júnior, Fernando Ferreira Costa, Carmen Sílvia Bertuzzo
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2005-01-01
Series:Genetics and Molecular Biology
Subjects:
Fanconi anaemia
DEB test
molecular diagnosis
FANCA
FANCC
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200004

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200004

Similar Items