The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Autor: Baydakova GV; Federal State Budgetary Scientific Institution 'Research Center for Medical Genetics', Moscow, Russia., Ivanova TA; Federal State Budgetary Scientific Institution 'Research Center for Medical Genetics', Moscow, Russia. breaking18@gmail.com., Mikhaylova SV; Russian Children's Clinical Hospital of the Ministry of Health of the Russian Federation, Moscow, Russia., Saydaeva DK; Perinatal Center, State Budgetary Institution Maternity Hospital, Grozny, The Chechen Republic, Russia., Dzhudinova LL; Perinatal Center, State Budgetary Institution Maternity Hospital, Grozny, The Chechen Republic, Russia., Akhlakova AI; Republican Center for Medical Genetics, Makhachkala, The Republic of Dagestan, Russia., Gamzatova AI; Republican Center for Medical Genetics, Makhachkala, The Republic of Dagestan, Russia., Bychkov IO; Federal State Budgetary Scientific Institution 'Research Center for Medical Genetics', Moscow, Russia., Zakharova EY; Federal State Budgetary Scientific Institution 'Research Center for Medical Genetics', Moscow, Russia.

Publikováno v: JIMD reports [JIMD Rep] 2019; Vol. 45, pp. 89-93. Date of Electronic Publication: 2018 Nov 11.