CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
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, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
|
19941651 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.
|
11520175 |
2001 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.
|
11506414 |
2001 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
|
9425237 |
1998 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
|
9425237 |
1998 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
|
9664077 |
1998 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
|
9664077 |
1998 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
|
7637805 |
1995 |
Neuronal Ceroid-Lipofuscinoses
|
|
0.010 |
GeneticVariation
|
BEFREE |
Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2.
|
16720047 |
2006 |
Infantile neuronal ceroid lipofuscinosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two of the mutations (delPhe84 and insCys45) cause a classical INCL phenotype and two (Thr75Pro and Leu219Gln) result in a late onset disease phenotype.
|
11520175 |
2001 |