Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome

Abstract Background Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal instability disorder that leads to aneuploidies of different chromosomes in various tissues. Type 1 MVA (MVA1) is caused by mutations in the budding uninhibited by benzimidazoles 1 homolog beta (BUB1B) gene. The main cl...

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Principais autores:	Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova, Anna Shcherbina
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2019-05-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Mosaic variegated aneuploidy syndrome BUB1B gene. Hematopoietic stem cell transplantation. TCRαβ+/CD19+ graft depletion.
Acesso em linha:	http://link.springer.com/article/10.1186/s13023-019-1073-x
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