Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Jinying LuoYinglin ZengXiaolong QiuQingying LinWeifeng ChenJinying LuoLiangpu Xu

Published in: Molecular biology reports (2022)

Our study identified a PAH variant spectrum in PAHD patients from Fujian Province, Southeastern China. Quantitative correlation analysis between genotype and phenotype severity is helpful for genetic counseling and management.

Keyphrases

copy number
end stage renal disease
south africa
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
high resolution
smoking cessation
dna methylation
polycyclic aromatic hydrocarbons