FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia

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 lab...

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Détails bibliographiques
Auteurs principaux: D.V. Pilonetto, N.F. Pereira, M.A. Bitencourt, N.I.R. Magdalena, E.R. Vieira, L.B.A. Veiga, I.J. Cavalli, R.C. Ribeiro, R. Pasquini
Format: Artigo
Langue:Inglês
Publié: Associação Brasileira de Divulgação Científica 2009-03-01
Collection:Brazilian Journal of Medical and Biological Research
Sujets:
Fanconi anemia
FANCD2 Western blot
Diepoxybutane test
Monoubiquitination
Immunoblotting
Accès en ligne:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000300004
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