Author:
Bliksrud Y. T.,Brodtkorb E.,Andresen P. A.,van den Berg I. E. T.,Kvittingen E. A.
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Drug Discovery,Molecular Medicine
Reference10 articles.
1. Goldsmith LA, Laberge C (1989) In: Scriver CR, Benita Y, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 547–562
2. Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P (1994) Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 94:1657–1661
3. Dreumont N, Poudrier JA, Bergeron A, Levy HL, Baklouti F, Tanguay RM (2001) A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. BMC Genet 2:9
4. Poudrier J, Lettre F, Scriver CR, Larochelle J, Tanguay RM (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Mol Genet Metab 64:119–125
5. Rootwelt H, Kristensen T, Berger R, Hoie K, Kvittingen EA (1994) Tyrosinemia type 1-complex splicing defects and a missense mutation in the fumarylacetoacetase gene. Hum Genet 94:235–239
Cited by
22 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献