|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
|
11093273 |
2000 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
|
10425042 |
1999 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
|
9894878 |
1999 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.
|
10417279 |
1999 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
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 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
|
9633722 |
1998 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
|
9747038 |
1998 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
|
9482656 |
1998 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.
|
9008538 |
1997 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
|
7531827 |
1995 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
|
7539213 |
1995 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
|
7541731 |
1995 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
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 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Comparison of statistics for candidate-gene association studies using cases and parents.
|
8037216 |
1994 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.
|
7683951 |
1993 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
|
1384324 |
1992 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
|
1707231 |
1991 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
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 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
|
2480601 |
1989 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
|
2479017 |
1989 |
|
rs132630278
|
|
Pelizaeus-Merzbacher Disease
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs132630279
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
|
11093273 |
2000 |
|
rs132630279
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
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 |
|
rs132630279
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
|
9894878 |
1999 |
|
rs132630279
|
|
Pelizaeus-Merzbacher Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
|
10425042 |
1999 |