[HTML][HTML] Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
SF Garbade, N Shen, N Himmelreich, D Haas…�- Genetics in�…, 2019 - Elsevier
Purpose The nature of phenylalanine hydroxylase (PAH) variants determines residual
enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We
exploited the statistical power of a large genotype database to determine the relationship
between genotype and phenotype in PKU. Methods A total of 9336 PKU patients with 2589
different genotypes, carrying 588 variants, were investigated using an allelic phenotype
value (APV) algorithm. Results We identified 251 0-variants encoding inactive PAH, and�…
enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We
exploited the statistical power of a large genotype database to determine the relationship
between genotype and phenotype in PKU. Methods A total of 9336 PKU patients with 2589
different genotypes, carrying 588 variants, were investigated using an allelic phenotype
value (APV) algorithm. Results We identified 251 0-variants encoding inactive PAH, and�…