|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
|
12497641 |
2003 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
|
11596785 |
2001 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
|
11438991 |
2001 |
|
rs121913585
|
|
|
0.710 |
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 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
|
9452091 |
1998 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
rs121913585
|
|
|
0.710 |
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 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
|
9222756 |
1997 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
8630052 |
1996 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
BEFREE |
This is the third mutation reported at this codon, the two previously described leading to CMT1B (serine 63 deletion), or to Dejerine-Sottas disease (cysteine for serine 63 substitution), suggesting that different phenotypes can result from alteration of a single amino acid, depending on the type of the change involved.
|
8835320 |
1995 |
|
rs121913585
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
7506095 |
1993 |