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...
Main Authors: | 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 |
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Format: | Article |
Language: | English |
Published: |
Associação Brasileira de Divulgação Científica
2009-03-01
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Series: | Brazilian Journal of Medical and Biological Research |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000300004 |
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