Peculiarities of the spectrum of mutations in hereditary tyrosinemia type I in various populations of the Russian Federation

• Main Authors: G. Baydakova V., T. Ivanova A., G. Radzhabova M., D. Saydaeva Kh., L. Dzhudinova L., A. Akhlakova I., A. Gamzatova I., L. Melikyan P., I. Bychkov O., S. Mikhaylova V., E. Zakharova Yu., Г. Байдакова В., Т. Иванова А., Г. Раджабова М., Д. Сайдаева Х., Л. Джудинова Л., А. Ахлакова И., А. Гамзатова И., Л. Меликян П., И. Бычков О., С. Михайлова В., Е. Захарова Ю.
• Format: Article in Journal/Newspaper
• Language: Russian
• Published: Publishing House «Genius Media» LLC 2018
• Subjects: тирозинемия тип 1; недостаточность фумарилацетоацетат гидролазы; мутация; аллель; этнос; tyrosinemia type 1; fumarylacetoacetate hydrolase deficiency; mutation; allele; ethnicity; Canada; Chechen; Norway; nenets; Ненец*
• Online Access: https://www.medgen-journal.ru/jour/article/view/306

Tyrosinemia type I (TH1) is an inborn autosomal recessive disorder of tyrosine catabolism caused by defective strength of fumarylacetoacetate hydrolase and mutations in FAH gene. The frequency of TH1 is approximately one in 100,000 to 120,000 live births worldwide. Several regions of the world have...