Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.

Seyed Reza Kazemi Nezhad Pegah Namdar Aligoodarzi Golale Rostami Gholamreza Shariati Hamid Galehdari Alihossein Saberi Alireza Sedaghat Mohammad Hamid

Published in: Molecular genetics & genomic medicine (2023)

In this light, appropriate patient management may follow. The clinical effect of reported variants is essential for genetic counseling and prenatal diagnosis in the patients' families and significant for the improvement of precision medicine.

Keyphrases

copy number
end stage renal disease
genome wide
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
case report
dna methylation
patient reported outcomes
hiv infected
antiretroviral therapy
cell wall
bioinformatics analysis