Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.
Ding
J H
JH
Department of Pediatrics, Duke University Durham, NC 27710.
Bross
P
P
Yang
B Z
BZ
Iafolla
A K
AK
Millington
D S
DS
Roe
C R
CR
Gregersen
N
N
Chen
Y T
YT
D042964:Acyl-CoA Dehydrogenase; D000483:Alleles; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D004926:Escherichia coli / Q000235:genetics; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000235:genetics*; D015964:Gene Expression Regulation, Bacterial / Q000502:physiology; D005787:Gene Frequency / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics
D004247:DNA; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase