|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.
|
22878930 |
2013 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Relationship between enzyme properties and disease progression in Canavan disease.
|
22850825 |
2013 |
|
Canavan Disease, Familial Form
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Long-term follow-up after gene therapy for canavan disease.
|
23253610 |
2012 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Long-term follow-up after gene therapy for canavan disease.
|
23253610 |
2012 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.
|
22019069 |
2011 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
|
18978679 |
2008 |
|
Canavan Disease, Familial Form
|
0.400 |
Biomarker
|
disease |
CTD_human |
Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.
|
17194761 |
2007 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
|
16854607 |
2006 |
|
Canavan Disease, Familial Form
|
0.400 |
Biomarker
|
disease |
CTD_human |
Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
|
17027983 |
2006 |
|
Canavan Disease, Familial Form
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
|
16854607 |
2006 |
|
Canavan Disease, Familial Form
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
|
12638939 |
2002 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
|
12638939 |
2002 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.
|
11238686 |
2001 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
|
10701101 |
2000 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
|
10909858 |
2000 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
|
10407784 |
1999 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
|
8659549 |
1996 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Canavan disease: mutations among Jewish and non-Jewish patients.
|
8023850 |
1994 |
|
Canavan Disease, Familial Form
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
|
8252036 |
1993 |