×
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
Biomarker
CLINGEN
Pelizaeus-Merzbacher disease (PMD ) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (<i>PLP1</i>) located on chromosome Xq22.28101371 2017
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
GENOMICS_ENGLAND
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
25655951 2015
×
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
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
Biomarker
CLINGEN
To report the analysis of mutations in the PLP1 gene and phenotype di!erences in ten male patients diagnosed with PMD .
24519770 2014
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.
23347225 2013
×
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
GeneticVariation
UNIPROT
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease .
15712223 2005
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A duplication of the whole PLP gene is the most common mutation and results usually in the milder classical phenotype, whereas point mutations in PLP gene often result in the rarer and more severe connatal form of PMD .
11786921 2002
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
CLINGEN
We investigated 52 PMD and 28 SPG families without large PLP duplications or deletions by genomic PCR amplification and sequencing of the PLP gene.
11093273 2000
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
Biomarker
GENOMICS_ENGLAND
We investigated 52 PMD and 28 SPG families without large PLP duplications or deletions by genomic PCR amplification and sequencing of the PLP gene.
11093273 2000
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
We investigated 52 PMD and 28 SPG families without large PLP duplications or deletions by genomic PCR amplification and sequencing of the PLP gene.
11093273 2000
×
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
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
Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
9894878 1999
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Investigating 82 strictly selected sporadic cases of PMD , we found PLP mutations in 77%; complete PLP -gene duplications were the most frequent abnormality (62%), whereas point mutations in coding or splice-site regions of the gene were involved less frequently (38%).
10417279 1999
×
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 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
Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
9482656 1998
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
Connatal Pelizaeus-Merzbacher disease : a missense mutation in exon 4 of the proteolipid protein (PLP ) gene.
9747038 1998
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
In investigating genotype-phenotype correlations, we screened five Japanese families with PMD for PLP gene mutations and compared their clinical manifestations.
9008538 1997
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
Pelizaeus-Merzbacher Disease
1.000
GeneticVariation
UNIPROT
A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
9143933 1997
×
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
A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
7531827 1995