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

Isabel Ibarra-GonzálezCynthia Fernández-LainezMiguel Angel Alcántara-OrtigozaAriadna González-Del AngelLiliana Fernández-HenándezSara Guillén-LópezLeticia Belmont-MartínezLizbeth López-MejíaGustavo Varela-FascinettoMarcela Vela Amieva

Published in: Molecular genetics & genomic medicine (2019)

HT1 patients had a heterogeneous mutational and clinical spectrum and no genotype-phenotype correlation could be established.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
peritoneal dialysis
prognostic factors
molecular docking