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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...
Spremljeno u:
| Izdano u: | Blood |
|---|---|
| Glavni autori: | , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society of Hematology
2020
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| Teme: | |
| 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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