Common MCAD mutation in a healthy parent of two affected siblings.
Heptinstall
L E
LE
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.
Till
J
J
Wraith
J E
JE
Besley
G T
GT
D042964:Acyl-CoA Dehydrogenase; D000328:Adult; D004247:DNA / Q000032:analysis; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
D004247:DNA; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase