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

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 clinical f...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Laberko, Alexandra, Balashov, Dmitry, Deripapa, Elena, Soldatkina, Olga, Raikina, Elena, Maschan, Alexei, Novichkova, Galina, Shcherbina, Anna
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6500003/
https://ncbi.nlm.nih.gov/pubmed/31053147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1073-x
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky