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

ConclusionHT1 patients had a heterogeneous mutational and clinical spectrum and no genotype –phenotype correlation could be established.

Source: Molecular Genetics & Genomic Medicine - September 29, 2019 Category: Genetics & Stem Cells Authors: Isabel Ibarra ‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varel Tags: ORIGINAL ARTICLE Source Type: research