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

Baydakova, G V; Ivanova, T A; Mikhaylova, S V; Saydaeva, D Kh; Dzhudinova, L L; Akhlakova, A I; Gamzatova, A I; Bychkov, I O; Zakharova, E Yu

Baydakova, G V; Ivanova, T A; Mikhaylova, S V; Saydaeva, D Kh; Dzhudinova, L L; Akhlakova, A I; Gamzatova, A I; Bychkov, I O; Zakharova, E Yu.

Afiliação

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.

JIMD Rep ; 45: 89-93, 2019.

Article em En | MEDLINE | ID: mdl-30414057

Palavras-chave

Allele; Ethnicity; Fumarylacetoacetate hydrolase deficiency; Mutation; Tyrosinemia type 1

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Federação Russa

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