Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibrin (NBN) gene (c.657_661del5, p.K219fsX19) with a...

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Detalles Bibliográficos
Autores principales: Sharapova, Svetlana O., Pashchenko, Olga E., Bondarenko, Anastasiia V., Vakhlyarskaya, Svetlana S., Prokofjeva, Tatjana, Fedorova, Alina S., Savchak, Ihor, Mareika, Yuliya, Valiev, Timur T., Popa, Alexander, Tuzankina, Irina A., Vlasova, Elena V., Sakovich, Inga S., Polyakova, Ekaterina A., Rumiantseva, Natalia V., Naumchik, Irina V., Kulyova, Svetlana A., Aleshkevich, Svetlana N., Golovataya, Elena I., Minakovskaya, Nina V., Belevtsev, Mikhail V., Latysheva, Elena A., Latysheva, Tatiana V., Beznoshchenko, Alexander G., Akopyan, Hayane, Makukh, Halyna, Kozlova, Olena, Varabyou, Dzmitry S., Ballow, Mark, Ong, Mei-Sing, Walter, Jolan E., Kondratenko, Irina V., Kostyuchenko, Larysa V., Aleinikova, Olga V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819964/
https://www.ncbi.nlm.nih.gov/pubmed/33488600
http://dx.doi.org/10.3389/fimmu.2020.602482

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819964/
https://www.ncbi.nlm.nih.gov/pubmed/33488600
http://dx.doi.org/10.3389/fimmu.2020.602482

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