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

Author:

Maydan G.,Andresen B. S.,Madsen P. P.,Zeigler M.,Raas-Rothschild A.,Zlotogorski A.,Gutman A.,Korman S. H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. al Essa MA, Rashed MS, Ozand PT (1999) Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response. East Mediterr Health J 5: 1204–1207.

2. al Hemidan AI, al Hazzaa SA (1995) Richner–Hanhart syndrome (tyrosinemia type II). Case report and literature review. Ophthalmic Genet 16: 21–26.

3. Buist NRM, Kennaway NG, Fellman JH (1985) Tyrosinemia type II: hepatic cytosol tyrosine aminotransferase deficiency (the Richner–Hanhart syndrome). In: Bickel H, Wachtel U, eds. Inherited Diseases of Amino Acid Metabolism. Stuttgart: Thieme, 203–235.

4. Charfeddine C, Monastiri K, Mokni M, et al (2006) Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: Identification and structural characterization of two novel TAT mutations. Mol Genet Metab 88: 184–191.

5. el Badramany MH, Fawzy AR, Farag TI (1995) Familial Richner–Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach. Am J Med Genet 60: 353–355.

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