Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C).
Ijlst
L
L
Department of Clinical Chemistry, University Hospital Amsterdam, The Netherlands.
Ruiter
J P
JP
Vreijling
J
J
Wanders
R J
RJ
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D015094:3-Hydroxyacyl CoA Dehydrogenases; D015252:Deoxyribonucleases, Type II Site-Specific; C024403:GGCC-specific type II deoxyribonucleases