Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

BACKGROUND: Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum underlying HT1 in the Mexican population is unknown. The objec...

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Detalles Bibliográficos
Autores principales: 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, Marcela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900384/
https://www.ncbi.nlm.nih.gov/pubmed/31568711
http://dx.doi.org/10.1002/mgg3.937

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900384/
https://www.ncbi.nlm.nih.gov/pubmed/31568711
http://dx.doi.org/10.1002/mgg3.937

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