Associated Papers
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Beyzaei Z et al.
Orphanet Journal of Rare Diseases, 2022
Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma.
Hannah-Shmouni F et al.
Molecular Genetics and Metabolism Reports, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L et al.
Clinical Genetics, 2017
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
Hühn R et al.
Human Genetics, 1998
Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.
Culic V et al.
European Journal of Medical Genetics, 0
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