Entry |
|
Name |
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
|
Disease |
|
Drug target |
Agalsidase beta: | D03228<JP/US> |
Pegunigalsidase alfa: | D11685<US> |
|
Reference |
|
Authors |
Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ |
Title |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. |
Journal |
Am J Hum Genet 53:1186-97 (1993) |
LinkDB |
|