Entry |
|
Name |
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
nt06025 Molybdenum cofactor biosynthesis |
Disease |
H02311 | Molybdenum cofactor deficiency |
|
Drug target |
|
Reference |
|
Authors |
Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C |
Title |
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. |
Journal |
|
LinkDB |
|