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...

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Detalles Bibliográficos
Autores principales: Pilonetto, Daniela V., Pereira, Noemi F., Bonfim, Carmem M. S., Ribeiro, Lisandro L., Bitencourt, Marco A., Kerkhoven, Lianne, Floor, Karijn, Ameziane, Najim, Joenje, Hans, Gille, Johan J. P., Pasquini, Ricardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511800/
https://www.ncbi.nlm.nih.gov/pubmed/28717661
http://dx.doi.org/10.1002/mgg3.293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511800/
https://www.ncbi.nlm.nih.gov/pubmed/28717661
http://dx.doi.org/10.1002/mgg3.293

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