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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Associação Brasileira de Divulgação Científica 2009-03-01
Σειρά:Brazilian Journal of Medical and Biological Research
Θέματα:
Fanconi anemia
FANCD2 Western blot
Diepoxybutane test
Monoubiquitination
Immunoblotting
Διαθέσιμο Online:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000300004
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