|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
MGD |
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
|
15459177 |
2004 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
|
19309691 |
2009 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
|
20052765 |
2010 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
|
17607606 |
2007 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
|
15728307 |
2005 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
|
16814585 |
2006 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
1203 |
| Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |