| Entry |
|
| Name |
|
| Gene |
GBA1 lysosomal acid glucosylceramidase isoform 1 precursor [KO: K01201]
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
|
| Drug target |
| Taliglucerase alfa: | D09675<US> |
| Velaglucerase alfa: | D09029<JP/US> |
|
| Reference |
|
| Authors |
Latham T, Grabowski GA, Theophilus BD, Smith FI |
| Title |
Complex alleles of the acid beta-glucosidase gene in Gaucher disease. |
| Journal |
Am J Hum Genet 47:79-86 (1990) |
| Reference |
|
| Authors |
Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E |
| Title |
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. |
| Journal |
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| LinkDB |
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