×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
7531827 1995
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Different mutations in the same codon of the proteolipid protein gene, PLP , may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease /X-linked spastic paraplegia (PMD /SPG2 ).
9934976 1999
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
1715570 1991
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing.
3466187 1986
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
2773936 1989
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
We detected a novel pathogenic PLP1 missense mutation c.251C > A (p.Ala84Asp) allowing us to make a diagnosis of Pelizaeus-Merzbacher Disease for this family.
29486744 2018
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
1384324 1992
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.
8909455 1996
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
These results demonstrate that duplications of the PLP gene are the major cause of PMD .
9633722 1998
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis.
1708672 1990
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CTD_human
The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD ) caused by mutations in PLP1 .
18571143 2008
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development.
1723945 1990
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Pelizaeus-Merzbacher disease : a point mutation in exon 6 of the proteolipid protein (PLP ) gene.7541731 1995
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
7539213 1995
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
GENOMICS_ENGLAND
A sex-linked recessive form of spastic paraplegia.
14452137 1962
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Comparison of statistics for candidate-gene association studies using cases and parents.
8037216 1994
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
Mutation c.453_453+6del7insA affects the exon 3B donor splice site and disrupts the PLP1 -transcript without affecting the DM20, was found in a patient with severe Pelizaeus-Merzbacher disease and in his female cousin with early-onset spastic paraparesis.
23771846 2014
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease.
7679906 1993
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
GENOMICS_ENGLAND
A practical approach to diagnosing adult onset leukodystrophies.
24357685 2014
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Linkage of a new mutation in the proteolipid protein (PLP ) gene to Pelizaeus-Merzbacher disease (PMD ) in a large Finnish kindred.
7684886 1993
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
10425042 1999
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A new mutation in the proteolipid protein (PLP ) gene in a German family with Pelizaeus-Merzbacher disease .
1707231 1991
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
9788732 1998
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
2479017 1989
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
2773936 1989