Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.

Pedro E B FreitasRoseani S AndradeÂndrea K Ribeiro-Dos-SantosLuiz C Santana-da Silva

Published in: Molecular genetics & genomic medicine (2023)

In PKU patients from state of Pará, North Region of Brazil, a heterogeneous mutation spectrum was revealed, in which the most frequent mutations are variants commonly observed in other Brazilian studies and in the region of the Iberian Peninsula.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
gene expression
single cell
patient reported outcomes
copy number
patient reported