rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.
|
24103481 |
2014 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.
|
17438221 |
2007 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
|
15450775 |
2004 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
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 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
|
10319897 |
1999 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
|
9489796 |
1998 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
|
8956049 |
1996 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
|
8780101 |
1996 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
The rumpshaker mutation in spastic paraplegia.
|
7522741 |
1994 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
|
8012387 |
1994 |
rs132630287
|
PLP1;RAB9B
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|