Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia

Severe aplastic anemia (SAA) is most frequently immune mediated, however, rare inherited bone marrow failure syndromes, such as Fanconi anemia (FA), may be causal, and can present as aplastic anemia (AA). FA is primarily an autosomal recessive disorder caused by having two pathogenic variants in a s...

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Pubblicato in:Biol Blood Marrow Transplant
Autori principali: McReynolds, Lisa J., Wang, Youjin, Thompson, Ashley S., Ballew, Bari J., Kim, Jung, Alter, Blanche P., Hicks, Belynda, Zhu, Bin, Jones, Kristine, Spellman, Stephen R., Wang, Tao, Lee, Stephanie J., Savage, Sharon A., Gadalla, Shahinaz M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7243455/
https://ncbi.nlm.nih.gov/pubmed/31982544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbmt.2020.01.011
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