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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Tyrosinemia Type 3[original query]
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
JIMD reports 2013 2 1 17-21.
Dursun A, Ozgül R K, Sivri S, Tokatl? A, Güzel A, Mesci L, K?l?ç M, Aliefendioglu D, Ozçay F, Gündüz M, Co?kun
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Molecular genetics & genomic medicine 2019 10 7 (12): e937.
Ibarra-González Isabel, Fernández-Lainez Cynthia, Alcántara-Ortigoza Miguel Angel, González-Del Angel Ariadna, Fernández-Henández Liliana, Guillén-López Sara, Belmont-Martínez Leticia, López-Mejía Lizbeth, Varela-Fascinetto Gustavo, Vela-Amieva Marce
Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.
European journal of medical genetics 2024 9 71 104970.
Zahra Beyzaei, Zahra Goudarzi, Seyed Mohsen Dehghani, Hossein Moravej, Mohammad Hadi Imanieh, Maryam Ataollahi, Mozhdeh Heidari, Bita Geramizad
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