Ibarra-González, Isabel <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2324-9269 
<br/><br/><label>Standard No.: </label>10.1002/mgg3.937  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Child, Preschool<br/>Exons<br/>Female<br/>Genotype<br/>Humans<br/>Hydrolases--genetics<br/>Infant<br/>Introns<br/>Liver--pathology<br/>Male<br/>Mexico--epidemiology<br/>Mutation, Missense<br/>Tyrosinemias--enzymology