rs770485731
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
|
27638593 |
2016 |
rs770485731
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
|
27638593 |
2016 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
|
23462331 |
2013 |
rs770485731
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.
|
24297913 |
2013 |
rs770485731
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.
|
23319190 |
2012 |
rs770485731
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
|
21824559 |
2011 |
rs770485731
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Insights into Krabbe disease from structures of galactocerebrosidase.
|
21876145 |
2011 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
|
20886637 |
2010 |
rs770485731
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
|
20886637 |
2010 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
|
17579360 |
2007 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular basis of late-life globoid cell leukodystrophy.
|
10477434 |
1999 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular heterogeneity of Krabbe disease.
|
10234611 |
1999 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.
|
9272171 |
1997 |
rs770485731
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
|
9338580 |
1997 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.
|
8786069 |
1996 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
|
8940268 |
1996 |
rs770485731
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular defects in Krabbe disease.
|
8595408 |
1995 |
rs770485731
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot.
|
3362311 |
1988 |