|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
|
20340139 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
|
14736728 |
2004 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
|
12698559 |
2003 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
|
12376936 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.
|
12414822 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.
|
11241479 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
New mutations in the neuronal ceroid lipofuscinosis genes.
|
11589012 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
|
11339651 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
|
10665500 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|