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Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia proteins in DNA repair, their involvement in mitochondrial function is emerging. The purpose of this work was to assess wheth...
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| 出版年: | Haematologica |
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| 主要な著者: | , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Ferrata Storti Foundation
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5830397/ https://ncbi.nlm.nih.gov/pubmed/29269525 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.176131 |
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