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...
Saved in:
Main Authors: | 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 |
---|---|
Format: | Artigo |
Language: | English |
Published: |
Sociedade Brasileira de Genética
2017
|
Subjects: | |
Online Access: |
http://repositorio.unb.br/handle/10482/26521 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
by: Rocha, Renato Marano, et al.
Published: (2017) -
TNFA gene in Brazilian patients with hemorrhagic stroke or cerebral aneurysm
by: Borges, Felipe Silva Alves, et al.
Published: (2019) -
Desenvolvimento de marcadores moleculares para análogos a genes de resistência em Arachis spp. silvestres
by: Guimarães, Patrícia M., et al.
Published: (2017) -
Polimorfismos dos genes das citocinas regulatórias (IL-10 e TGF-β1), inflamatória (IL-4) e do receptor de vitamina D em relação aos fenótipos clínicos da alergia às proteínas do leite de vaca
by: SILVA, Silvia Alves da
Published: (2016) -
Prevalence of dementia among elderly Brazilians: a systematic review
by: Fagundes, Susana Dytz, et al.
Published: (2017)