| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06024 Valine, leucine and isoleucine degradation |
|---|
| Disease |
|
|---|
| Reference |
|
|---|
| Authors |
Vockley J, Parimoo B, Tanaka K |
|---|
| Title |
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. |
|---|
| Journal |
Am J Hum Genet 49:147-57 (1991) |
|---|
| LinkDB |
|
|---|
