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| Pilonetto,D.V.; Pereira,N.F.; Bitencourt,M.A.; Magdalena,N.I.R.; Vieira,E.R.; Veiga,L.B.A.; Cavalli,I.J.; Ribeiro,R.C.; Pasquini,R.. |
| Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular pathogenesis of this disease led researchers to develop a diagnostic test based on Western blot for FANCD2. The objective of the present study was to determine the efficacy of this method for the diagnosis of 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy controls. The FANCD2 monoubiquitinated isoform (FANCDS+/FANCD2L-) was not detected in 77... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fanconi anemia; FANCD2 Western blot; Diepoxybutane test; Monoubiquitination; Immunoblotting. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000300004 |
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