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
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.
Maydan G et al.
Journal of Inherited Metabolic Disease, 2006
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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