Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.

Seyedeh Helia Sadat Fatemi Peyman Eshraghi Mahmoud Ghanei Tayebeh Hamzehloei

Published in: Molecular genetics & genomic medicine (2022)

Despite the genetic similarities in the disease-causing variants, differences were observed in the Asian and European populations with our populations; As a result, similar but more extensive studies are needed to investigate the distribution of disease-causing variants in genes involved in non-PKU hyperphenylalaninemia.

Keyphrases

copy number
gene expression
case control