Consulta: creatorFacets:"Figueiredo,Maria Estela"
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Data/hora: 02/06/2024 03:36:54

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia
Provedor de dados: 74
Autores: Rodriguez,David Enrique Aguilar; Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Figueiredo,Maria Estela; Carneiro,Jorge David Aivazoglu; Tone,Luiz Gonzaga; Llerena Jr.,Juan Clinton; Toscano,Raquel Alves; Brandalise,Silvia; Pinto Júnior,Walter; Costa,Fernando Ferreira; Bertuzzo,Carmen Sílvia.
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 patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -&gt; T,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fanconi anaemia; DEB test; Molecular diagnosis; FANCA; FANCC.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200004