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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550815/
https://www.ncbi.nlm.nih.gov/pubmed/26085575
http://dx.doi.org/10.1093/hmg/ddv227

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550815/
https://www.ncbi.nlm.nih.gov/pubmed/26085575
http://dx.doi.org/10.1093/hmg/ddv227

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