Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of the mitochondrial beta-oxidation in humans. It is a potentially fatal, autosomal recessive inherited defect. Most patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985),...

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Veröffentlicht in:	American journal of human genetics 1994-06, Vol.54 (6), p.975-988
Hauptverfasser:	Andresen, B S, Jensen, T G, Bross, P, Knudsen, I, Winter, V, Kølvraa, S, Bolund, L, Ding, J H, Chen, Y T, Van Hove, J L
Format:	Artikel
Sprache:	eng
Schlagworte:	550900 > Pathology Acyl-CoA Dehydrogenase Acyl-CoA Dehydrogenases - analysis Acyl-CoA Dehydrogenases - deficiency Acyl-CoA Dehydrogenases - genetics Animals Base Sequence BASIC BIOLOGICAL SCIENCES Cell Line DETECTION DISEASES DNA Mutational Analysis DNA SEQUENCING enzymatic activity ENZYMES Exons - genetics Female Gene Expression GENE MUTATIONS genes Humans Male man METABOLIC DISEASES Models, Molecular Molecular Sequence Data Mutagenesis, Site-Directed mutation MUTATIONS ORGANIC COMPOUNDS Original OXIDOREDUCTASES Pedigree Point Mutation - genetics Polymerase Chain Reaction - methods protein folding PROTEINS RNA, Messenger - analysis STRUCTURAL CHEMICAL ANALYSIS 550400 > Genetics structure Transfection
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