A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I Grompe M, St,-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM. N Engl J Med 1994;331:353?357
作者： René Romero , Joel E Lavine
DOI: 10.1016/0270-9139(95)90273-2
关键词:
摘要:
elsevier.com
sci-hub.se 参考文章(10)
J Larochelle, M De Braekeleer, Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. American Journal of Human Genetics. ,vol. 47, pp. 302- 307 ,(1990)
Kvittingen Ea, Hereditary tyrosinemia type I--an overview. Scandinavian Journal of Clinical & Laboratory Investigation. ,vol. 184, pp. 27- 34 ,(1986)
Arden K, Tanguay Rm, Cavenee W, Labelle Y, Bérubé D, Gagné R, Phaneuf D, Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. American Journal of Human Genetics. ,vol. 48, pp. 525- 535 ,(1991)
Markus Grompe, Maryse St.-Louis, Sylvie I. Demers, Muhsen Al-Dhalimy, Barbara Leclerc, Robert M. Tanguay, A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I The New England Journal of Medicine. ,vol. 331, pp. 353- 357 ,(1994) , 10.1056/NEJM199408113310603
André Grenier, André Lescault, Claude Laberge, Richard Gagné, Orvall Marner, Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia Clinica Chimica Acta. ,vol. 123, pp. 93- 99 ,(1982) , 10.1016/0009-8981(82)90117-6
D Phaneuf, M Lambert, R Laframboise, G Mitchell, F Lettre, R M Tanguay, Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. Journal of Clinical Investigation. ,vol. 90, pp. 1185- 1192 ,(1992) , 10.1172/JCI115979
C. Jakobs, F. Stellaard, E. A. Kvittingen, M. Henderson, R. Lilford, First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination Prenatal Diagnosis. ,vol. 10, pp. 133- 134 ,(1990) , 10.1002/PD.1970100210
S LINDSTEDT, Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase The Lancet. ,vol. 340, pp. 813- 817 ,(1992) , 10.1016/0140-6736(92)92685-9
E. Agsteribbe, H. van Faassen, M. V. Hartog, T. Reversma, J.-W. Taanman, H. Pannekoek, R.F. Evers, G.M. Welling, R. Berger, Nucleotide sequence of cDNA encoding human fumarylacetoacetase. Nucleic Acids Research. ,vol. 18, pp. 1887- 1887 ,(1990) , 10.1093/NAR/18.7.1887
Markus Grompe, Muhsen Al-Dhalimy, Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I Human Mutation. ,vol. 2, pp. 85- 93 ,(1993) , 10.1002/HUMU.1380020205