×
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
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
×
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
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
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
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
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
1715570
1991