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

Ibarra-González, Isabel

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant. [electronic resource] - Molecular genetics & genomic medicine 12 2019 - e937 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2324-9269

10.1002/mgg3.937 doi


Alleles
Child, Preschool
Exons
Female
Genotype
Humans
Hydrolases--genetics
Infant
Introns
Liver--pathology
Male
Mexico--epidemiology
Mutation, Missense
Tyrosinemias--enzymology