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Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)

BACKGROUND: Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to t...

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Detalles Bibliográficos
Autores principales:	Deripapa, Elena, Balashov, Dmitry, Rodina, Yulia, Laberko, Alexandra, Myakova, Natalya, Davydova, Nataliia V., Gordukova, Maria A., Abramov, Dmitrii S., Pay, Galina V., Shelikhova, Larisa, Prodeus, Andrey P., Maschan, Mikhail A., Maschan, Alexey A., Shcherbina, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523727/ https://www.ncbi.nlm.nih.gov/pubmed/28791007 http://dx.doi.org/10.3389/fimmu.2017.00807

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