|
rs104894161
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS.
|
10371530 |
1999 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
|
12497641 |
2003 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
|
11438991 |
2001 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
|
11596785 |
2001 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
|
9452091 |
1998 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.
|
9452055 |
1998 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
|
9222756 |
1997 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
|
9187667 |
1997 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
8630052 |
1996 |
|
rs121913586
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
7506095 |
1993 |
|
rs104894826
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
|
15947997 |
2005 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.
|
12090401 |
2002 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
|
11438991 |
2001 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.
|
10663978 |
2000 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
|
10211478 |
1999 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
|
9452053 |
1998 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
|
9544841 |
1998 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."
|
9585367 |
1998 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
|
9055797 |
1997 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
|
8995589 |
1997 |
|
rs879253954
|
|
Dejerine-Sottas Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
|
9187667 |
1997 |