×
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
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
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
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
The recent detection of mutations in the myelin proteolipid protein (PLP ) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease.
1376966 1992
×
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
The polymerase chain reaction was used to amplify the exons of the PLP gene of an affected male from a large Indiana PMD kindred.
2480601 1989
×
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
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
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
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
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
×
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
GeneticVariation
UNIPROT
Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
7573159 1995
×
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
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
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
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
Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
9482656 1998
×
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
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
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
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