A new nonsense mutation is associated with dysmorphism in lethal neonatal CPTII deficiency.
Department of Paediatric Biochemistry Royal Hospital for Sick Children Department of Pathology, Royal Infirmary of Edinburgh Department of Genetics, Western General Hospital The Simpson Centre for Reproductive Health, Edinburgh The Neonatal Unit, Aberdeen Maternity Hospital, Foresterhill, Aberdeen, UK.
Jennifer S
JS
McGill
Margaret
M
Evans
Jean M
JM
Kirk
Wayne
W
Lam
Michael
M
Munro
Julie-Clare
JC
Becher
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D018389:Codon, Nonsense; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D021782:Multicystic Dysplastic Kidney / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
D018389:Codon, Nonsense; D002334:Carnitine O-Palmitoyltransferase