Svoboda
|
Graniru
|
BBC Russia
|
Golosameriki
|
Facebook
VARIANT: 2717v2
Help
Entry
2717v2 Variant
Name
GLA mutation, migalastat amenable
Gene
GLA
galactosidase alpha [KO:
K01189
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation L300P
ClinVar:
92569
dbSNP:
rs398123223
Network
nt06014
Sphingolipid degradation
Disease
H00125
Fabry disease
Drug target
Migalastat (
DG02691
):
D05031
<JP/US>
Reference
PMID:
21598360
Authors
Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP, Schiffmann R, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER
Title
A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Journal
Hum Mutat 32:965-77 (2011)
DOI:
10.1002/humu.21530
LinkDB
All DBs
DBGET
integrated database retrieval system