The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
I
I
Yokota
P M
PM
Coates
D E
DE
Hale
P
P
Rinaldo
K
K
Tanaka
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D000225:Adenine / Q000502:physiology*; D000483:Alleles; D001483:Base Sequence; D005075:Biological Evolution; D002478:Cells, Cultured; D005006:Ethnicity / Q000235:genetics; D005347:Fibroblasts / Q000502:physiology; D014644:Genetic Variation / Q000235:genetics; D006147:Guanine / Q000502:physiology*; D006720:Homozygote; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012879:Skin Physiological Phenomena; D011795:Surveys and Questionnaires
D006147:Guanine; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D000225:Adenine