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Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia

✍ Scribed by R. Berger; O.P.A. Smit; S.A.Stoker-de Vries; M. Duran; D. Ketting; S.K. Wadman


Book ID
115823507
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
527 KB
Volume
114
Category
Article
ISSN
0009-8981

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Two missense mutations causing tyrosinem
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Hereditary tyrosinemia type 1, due to a deficiency of fumarylacetoacetase (FAH), is characterized by progressive liver damage and renal tubular dysfunction and may occur in an acute or a chronic form. An Ala 134 to Asp (GCT to GAT) transition was found in one Turkish and two Norwegian patients with