Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 ? q22.3 in a patient with tyrosinemia type II

Author:

Natt Ernst,Westphal Eva-Maria,Toth-Fejel Su Ellen,Magenis R. Ellen,Buist Neil R. M.,Rettenmeier Ruth,Scherer Gerd

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference35 articles.

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2. Baas F, Bikker H, van Ommen GJB, de Vijlder JJM (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet 67:301?305

3. Barton DE, Yang-Feng TL, Francke U (1986) The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22?q24) by somatic cell hybrid analysis and in situ hybridization. Hum Genet 72:221?224

4. Bensi G, Raugei G, Klefenz H, Cortese R (1985) Structure and expression of the human haptoglobin locus. EMBO J 4:119?126

5. 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. Thieme, Stuttgart New York, pp 203?235

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