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...
主要な著者: | , , , , , , , , |
---|---|
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 |