Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Filipa FerreiraLuísa AzevedoRaquel NeivaCarmen SousaHelena FonsecaAna MarcãoHugo RochaCélia CarmonaSónia RamosAnabela BandeiraEsmeralda MartinsTeresa CamposEsmeralda RodriguesPaula GarciaLuísa DiogoAna Cristina FerreiraSilvia SequeiraFrancisco SilvaLuísa RodriguesAna GasparPatrícia JaneiroAntónio AmorimLaura Vilarinho

Published in: Molecular genetics & genomic medicine (2021)

Our data reveal high heterogeneity at the biochemical and molecular levels and are expected to provide a better understanding of the molecular basis of this disease and to provide clues to elucidate genotype-phenotype correlations.

Keyphrases

single cell
single molecule
genome wide
big data
dna methylation
gene expression
artificial intelligence