Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A new method to identify the G1528C mutation in genomic DNA showing its high frequency (≈90%) and identification of a new mutation (T2198C)
- 1 March 1996
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 19 (2), 165-168
- https://doi.org/10.1007/bf01799420
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
- Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotypeJournal of Inherited Metabolic Disease, 1995
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- Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogeneBiochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 1994
- Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondriaBiochemical and Biophysical Research Communications, 1992
- Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein.Journal of Biological Chemistry, 1992