|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.
|
12090401 |
2002 |
|
rs104894624
|
|
|
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 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.
|
10663978 |
2000 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
|
10211478 |
1999 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
"Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."
|
9585367 |
1998 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150.
|
9544841 |
1998 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
|
9452053 |
1998 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150.
|
9544841 |
1998 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
|
9055797 |
1997 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
|
8995589 |
1997 |
|
rs104894624
|
|
|
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 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
|
9004143 |
1996 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
|
7728152 |
1995 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
|
7675244 |
1995 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
|
8275092 |
1993 |
|
rs104894624
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
|
8252046 |
1993 |