Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation - Peña‐Quintana, L.; Scherer, G.; Curbelo‐Estévez, M.L.; Jiménez‐Acosta, F.; Hartmann, B.; La Roche, F.; Meavilla‐Olivas, S.; Pérez‐Cerdá, C.; García‐Segarra, N.; Giguère, Y.; Huppke, P.; Mitchell, G.A.; et al. (Clinical genetics, 2017)
Keywords: Adolescent; Age of Onset; Alleles; Alternative splicing; Child; Child, Preschool; Data processing; Female; Founder Effect; Genetic Association Studies; Genetic Loci; genetics; Genotype; Hereditary diseases; Humans; Infant; Infant, Newborn; Life Sciences; Male; Metabolites; Mutation; Neonates; Pedigree; Phenotype; Polymorphism, Single Nucleotide; Richner‐Hanhart; Skin diseases; TAT; Tyrosine; Tyrosine Transaminase - genetics; tyrosinemia; Tyrosinemias - diagnosis; Tyrosinemias - diet therapy; Tyrosinemias - genetics; Young Adult; Richner-Hanhart; genetics; tyrosinemia; TAT; DIAGNOSIS; OCULOCUTANEOUS TYROSINEMIA; PLANTAR KERATODERMA; WILSON-DISEASE; IDENTIFICATION; AMINOTRANSFERASE GENE; DELETION; FEATURES; RICHNER-HANHART-SYNDROME; DELAYED; TAT GENE