Condition: Tyrosine Transaminase Deficiency Disease


rs118203916 in TAT-AS1;TAT gene and Tyrosine Transaminase Deficiency Disease PMID 1357662 1992 Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

PMID 16917729 2006 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.

PMID 9544843 1998 Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.

PMID 18577048 2008 Richner-Hanhart syndrome detected by expanded newborn screening.

PMID 28255985 2017 Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

rs118203914 in TAT;TAT-AS1 gene and Tyrosine Transaminase Deficiency Disease PMID 9544843 1998 Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.

PMID 27832414 2017 Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.