Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency.
IJx353L
University of Amsterdam, Department of Clinical Chemistry, The Netherlands. L.IJLST@AMC.UVA.NL
Ruiter
J P
JP
Oostheim
W
W
Niezen-Koning
K E
KE
Palmieri
F
F
Wanders
R J
RJ
D000595:Amino Acid Sequence; D000818:Animals; D009202:Cardiomyopathies / Q000235:genetics; D002333:Carnitine Acyltransferases; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D017809:Fatal Outcome; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D051381:Rats; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
D002352:Carrier Proteins; D005227:Fatty Acids; D026901:Membrane Transport Proteins; C120109:SLC25A20 protein, human; D002333:Carnitine Acyltransferases