| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00668 | Anemia due to disorders of glutathione metabolism |
| H02312 | Glutathione synthetase deficiency |
|
|---|
| Reference |
|
|---|
| Authors |
Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW |
|---|
| Title |
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Xia H, Ye J, Wang L, Zhu J, He Z |
|---|
| Title |
A case of severe glutathione synthetase deficiency with novel GSS mutations. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
