Variable gene expression within human tyrosinemia type 1 liver may reflect region‐specific dysplasia
B A Haber, E Chuang, W Lee, R Taub – 1 July 1996 – Patients with hereditary tyrosinemia type 1 have a deficiency of fumarylacetoacetate hydrolase (FAH) and develop progressive hepatocellular dysfunction with a high risk of malignant transformation. Serum alpha‐fetoprotein levels are frequently elevated in these patients; therefore, this commonly used marker of tumorigenesis is inadequate. To date, no literature exists describing the hepatic gene alterations in patients with this disease.