Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fu...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Toksoy, Güven, Uludağ Alkaya, Dilek, Bagirova, Gülendam, Avcı, Şahin, Aghayev, Agharza, Günes, Nilay, Altunoğlu, Umut, Alanay, Yasemin, Başaran, Seher, Berkay, Ezgi G., Karaman, Birsen, Celkan, Tiraje T., Apak, Hilmi, Kayserili, Hülya, Tüysüz, Beyhan, Uyguner, Zehra O.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2020
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7675230/
https://ncbi.nlm.nih.gov/pubmed/33224012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000509838
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