KEGG   VARIANT: 1374v1
Entry
1374v1                      Variant                                
Name
CPT1A deficiency
Type
Loss of function
Gene
CPT1A  carnitine O-palmitoyltransferase 1, liver isoform isoform 1 [KO:K08765]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600528
Network
nt06020  beta-Oxidation in mitochondria
Disease
H01981  Carnitine palmitoyltransferase I deficiency
Reference
PMID:12189492
  Authors
Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L
  Title
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
  Journal
Hum Genet 111:179-89 (2002)
DOI:10.1007/s00439-002-0752-0
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