The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations
BRCA1 is involved in the Fanconi anaemia (FA) pathway, which coordinates repair of DNA interstrand cross-links. FA is a rare genetic disorder characterised by bone marrow failure, cancer predisposition and congenital abnormalities, caused by biallelic mutations affecting proteins in the FA pathway....
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2023-12-01
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| Col·lecció: | Frontiers in Oncology |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1278004/full |
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