Citations for
1TAT, TATD
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation
Gokay S, Kendirci M, Ustkoyuncu PS, Kardas F, Bayram AK, Per H, Poyrazoğlu HG.
Pediatr Int. Oct;58(10):1069-1072. doi: 10.1111/ped.13062. Epub 2016 Sep 4. 2016
2TAT, TATD
A large TAT deletion in a tyrosinaemia type II patient.
Legarda M, Wlodarczyk K, Lage S, Andrade F, Kim GJ, Bausch E, Scherer G, Aldamiz-Echevarria LJ.
Mol Genet Metab 104(3):407-9. doi: 10.1016/j.ymgme.2011.05.009. Epub 2011 May 16. 2011
3TAT, TATD
Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.
Culic V, Betz RC, Refke M, Fumic K, Pavelic J.
Eur J Med Genet 54(3):205-8. doi: 10.1016/j.ejmg.2010.11.013. Epub 2010 Dec 9. 2011
4TAT, TATD
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
Charfeddine C, Monastiri K, Mokni M, Laadjimi A, Kaabachi N, Perin O, Nilges M, Kassar S, Keirallah M, Guediche MN, Kamoun MR, Tebib N, Ben Dridi MF, Boubaker S, Ben Osman A, Abdelhak S.
Mol Genet Metab 88(2):184-91. Epub 2006 Mar 30. 2006
5TAT, TATD
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
HŸhn R, et al.
Hum Genet 102 : 305-313. 1998
6TAT, TATD
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
Natt E, et al.
Proc Natl Acad Sci U S A 89 : 9297-9301. 1992
7TAT, TATD
Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II.
Natt E, et al.
Hum Genet 77 : 352-358. 1987