AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia

Fanconi anemia (FA) is a rare inherited disorder clinically characterized by congenital malformations, progressive bone marrow failure and cancer susceptibility. At the cellular level, FA is associated with hypersensitivity to DNA-crosslinking genotoxins. Eight of 17 known FA genes assemble the FA E...

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Publicado en:Hum Mol Genet
Main Authors: Virts, Elizabeth L., Jankowska, Anna, Mackay, Craig, Glaas, Marcel F., Wiek, Constanze, Kelich, Stephanie L., Lottmann, Nadine, Kennedy, Felicia M., Marchal, Christophe, Lehnert, Erik, Scharf, Rüdiger E., Dufour, Carlo, Lanciotti, Marina, Farruggia, Piero, Santoro, Alessandra, Savasan, Süreyya, Scheckenbach, Kathrin, Schipper, Jörg, Wagenmann, Martin, Lewis, Todd, Leffak, Michael, Farlow, Janice L., Foroud, Tatiana M., Honisch, Ellen, Niederacher, Dieter, Chakraborty, Sujata C., Vance, Gail H., Pruss, Dmitry, Timms, Kirsten M., Lanchbury, Jerry S., Alpi, Arno F., Hanenberg, Helmut
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2015
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4550815/
https://ncbi.nlm.nih.gov/pubmed/26085575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv227
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