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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
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: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares