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...

詳細記述

書誌詳細
主要な著者: 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
フォーマット: 論文
言語:English
出版事項: Associação Brasileira de Divulgação Científica 2009-03-01
シリーズ:Brazilian Journal of Medical and Biological Research
主題:
オンライン・アクセス:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000300004