Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

Niels Gregersen,Vibeke Winter,Diana Curtis,Thomas Deufel,Marion Mack,Jan Hendrickx,Patrick J. Willems,Alberto Ponzone,Teresa Parrella,Riccardo Ponzone,Jia-Huan Ding,Wen Zhang,Yuan Tsang Chen,Stephen G. Kahler,Charles R. Roe,Steen Kølvraa,Katrine Schneiderman,Brage S. Andresen,Peter Bross,Lars Bolund

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

1993

Medium-chain acyl CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited defect of fatty acid β-oxidation. Approximately 90% of the disease-causing alleles in diagnosed patients are due

Keywords:

Acyl CoA dehydrogenase
Molecular biology
Genetics
Enzyme
Biology
Allele frequency
Mutation
Fatty acid
Founder effect
Allele
Medium-chain acyl-CoA dehydrogenase
TaqI
Restriction fragment length polymorphism
Haplotype
Restriction enzyme
PstI

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