×
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
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
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
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
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
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 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
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
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
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
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
Direct sequencing of the PLP gene and PLP mRNAs from the brain of the PMD patient revealed a G to T transition in exon V of the PLP gene, which leads to a glycine to cysteine substitution at residue 220.
7683951
1993
×
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 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
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
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
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
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
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