Association of clinical severity with FANCB variant type in Fanconi anemia

Fanconi anemia (FA) is the most common genetic cause of bone marrow failure and is caused by inherited pathogenic variants in any of 22 genes. Of these, only FANCB is X-linked. We describe a cohort of 19 children with FANCB variants, from 16 families of the International Fanconi Anemia Registry. Tho...

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Bibliografski detalji
Izdano u:Blood
Glavni autori: Jung, Moonjung, Ramanagoudr-Bhojappa, Ramanagouda, van Twest, Sylvie, Rosti, Rasim Ozgur, Murphy, Vincent, Tan, Winnie, Donovan, Frank X., Lach, Francis P., Kimble, Danielle C., Jiang, Caroline S., Vaughan, Roger, Mehta, Parinda A., Pierri, Filomena, Dufour, Carlo, Auerbach, Arleen D., Deans, Andrew J., Smogorzewska, Agata, Chandrasekharappa, Settara C.
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2020
Teme:
Red Cells, Iron, and Erythropoiesis
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7193183/
https://ncbi.nlm.nih.gov/pubmed/32106311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2019003249
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