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The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome
Jytte Banner
,
N Gregersen
, S Kølvraa, B Nørgaard Pedersen, M Gregersen, K Helweg-Larsen, J Simonsen
Section of Forensic Pathology
Section of Systematic Theology
31
Citations (Scopus)
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Dive into the research topics of 'The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome'. Together they form a unique fingerprint.
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Keyphrases
Gene Coding
100%
Point mutation
100%
Medium-chain acyl-CoA Dehydrogenase
100%
Sudden Infant Death Syndrome
100%
Cause of Disease
100%
Inherited Metabolic Diseases
50%
Etiology
25%
Polymerase Chain Reaction Assay
25%
Sudden Death
25%
Common Disease
25%
Dried Blood Spots
25%
Homozygosity
25%
Clinical Presentation
25%
Heterozygosity
25%
Underrepresentation
25%
Well-defined
25%
Biochemistry, Genetics and Molecular Biology
Medium-Chain Acyl-CoA Dehydrogenase
100%
Acyl-CoA
100%
Point Mutation
100%
Infancy
66%
Dried Blood Spot
33%
Polymerase Chain Reaction
33%
Homozygosity
33%
Heterozygosity
33%
Population
33%