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A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients
BACKGROUND: Fanconi anemia (FA) is a predominantly autosomal recessive disease with wide genetic heterogeneity resulting from mutations in several DNA repair pathway genes. To date, 21 genetic subtypes have been identified. We aimed to identify the FA genetic subtypes in the Brazilian population and...
Guardado en:
| Publicado en: | Mol Genet Genomic Med |
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| Autores principales: | , , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5511800/ https://ncbi.nlm.nih.gov/pubmed/28717661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.293 |
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