フマリルアセトアセターゼ
1056/NEJM199408113310603. PMID 8028615.
St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM (1994). “Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I”. Hum. Mol. Genet. 3 (1): 69–72. doi:10.1093/hmg/3.1.69. PMID 8162054.
Grompe M, al-Dhalimy M (1993). “Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I”. Hum. Mutat. 2 (2): 85–93. doi:10.1002/humu.1380020205. PMID 8318997.
Labelle Y, Phaneuf D, Leclerc B, Tanguay RM (1993). “Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity”. Hum. Mol. Genet. 2 (7): 941–6.