Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

Author:

Gregersen N.,Winter V.,Lyonnet S.,Saudubray J. M.,Wendel U.,Jensen T. G.,Andresen B. S.,K�lvraa S.,Lehnert W.,Bolund L.,Christensen E.,Bross P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Andresen BS, Knudsen I, Winter V et al (1992) Mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in compound heterozygous patients with MCAD deficiency.Am J Hum Genet 51: A642.

2. Andresen BS, Kølvraa S, Bross P et al (1993) A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.Hum Mol Genet 2: 488.

3. Bennett MJ, Allison F, Pollitt RJ, Variend S (1990) Fatty acid oxidation defects as causes of unexpected death in infancy. In Tanaka K, Coates PM, eds.Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects. New York: Alan R Liss, 349?364.

4. Blakemore AIF, Singleton H, Pollitt R et al (1991) The frequency of the G985 MCAD mutation in the general population.Lancet 337: 298?299.

5. Bross P, Andresen BS, Winter V et al (1993) Cooverexpression of bacterial GroESL chaporonins partly overcomes non-productive folding and tetramer assembly ofE. coli expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.Biochim Biophys Acta 1182: 264?274.

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