Entry |
|
Name |
|
Type |
Loss of function
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
nt06021 beta-Oxidation in peroxisome |
Disease |
H02099 | Alpha-methylacyl-CoA racemase deficiency |
|
Reference |
|
Authors |
Sequeira JS, Vellodi A, Vanier MT, Clayton PT |
Title |
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates. |
Journal |
|
LinkDB |
|