Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00711778
Reference8 articles.
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2. Ijlst L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T (1994) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.Biochim Biophys Acta 1215: 347?350.
3. Jackson S, Singh Kler R, Bartlett K et al (1992) Combined enzyme defect of mitochondrial fatty acid oxidation.J Clin Invest 90: 1219?1225.
4. Kamijo T, Aoyama T, Miyazaki J, Hashimoto T (1993) Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid ?-oxidation multienzyme complex.J Biol Chem 268: 26452?26460.
5. Przyrembel H, Jakobs C, Ijlst L, de Klerk JBC, Wanders RJA (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.J Inher Metab Dis 14: 674?680.
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