×
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
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
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
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
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
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
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
×
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
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
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
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
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
GeneticVariation
UNIPROT
Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
9894878 1999