A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

Daniela Vandresen PillonettoNoemi F PereiraCarmem M S BonfimLisandro L RibeiroMarco A BitencourtLianne KerkhovenKarijn FloorNajim AmezianeHans JoenjeJohan J P GilleRicardo Pasquini

Published in: Molecular genetics & genomic medicine (2017)

The proposed method allowed genetic subtyping of 126/255 (49.4%) patients at a significantly reduced time and cost, which makes molecular diagnosis of FA Brazilian patients feasible.

Keyphrases

end stage renal disease
chronic kidney disease
ejection fraction
newly diagnosed
peritoneal dialysis
prognostic factors
gene expression
dna methylation
patient reported outcomes
single molecule
copy number