The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799421
Reference7 articles.
1. Aoyama T, Uchida Y, Kelley RI, et al (1993) A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.Biochem Biophys Res Commun 191: 1369–1372.
2. Aoyama T, Souri M, Ushikubo S, et al (1995) Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.J Clin Invest 95: 2465–2473.
3. Beinert H (1963) In Boyer PD, Lardy H, Myrback K, eds.The Enzymes, vol. 7. New York: Academic Press, 447–476.
4. Bertrand C, Largillière C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very-long-chain acyl-CoA dehydrogenase deficiency: identification of new inborn error of mitochondrial fatty acid oxidation in fibroblasts.Biochim Biophys Acta 1180: 327–329.
5. Gregersen N, Andresen BS, Bross P, et al (1991) Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant protein inE. coli.Hum Genet 86: 545–551.
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