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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Détails bibliographiques
Publié dans:Biol Blood Marrow Transplant
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2020
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Article
Accès en ligne: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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