Article
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
International journal of molecular sciences - 23 Apr 2024
Tebieva Inna S, Mishakova Polina V, Gabisova Yulia V, Khokhova Alana V, Kaloeva Tamara G, Marakhonov Andrey V, Shchagina Olga A, Polyakov Alexander V, Ginter Evgeny K, Kutsev Sergey I, Zinchenko Rena A
Abstract excerpt
This study, conducted in the Republic of North Ossetia-Alania (RNOA), aimed to explore the genetic landscape of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) in the Ossetian population using data from newborn screening (NBS). Through comprehensive molecular genetic analysis of 29 patients with HPA from diverse ethnic backgrounds, two major genetic variants in the PAH gene, P281L and P211T, were...
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