|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
|
9856562 |
1998 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
|
11180613 |
2001 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
|
10586261 |
1999 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
|
8162049 |
1994 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
|
8807343 |
1996 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Severe neuropathy with leaky connexin32 hemichannels.
|
15852376 |
2005 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
|
12325071 |
2002 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.
|
9452025 |
1998 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Twelve CMTX mutations (V13L, R15Q, R22Q, I30N, V35M, V63I, R75Q, Q80R, W133R, P158A, P172S and N205S) did not affect the ability of Cx32 to form homotypic gap junctions in N2A cells.
|
15006706 |
2004 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
|
12402337 |
2002 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
CMT1X phenotypes represent loss of GJB1 gene function.
|
17353473 |
2007 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
|
10234007 |
1999 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
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 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.
|
11891346 |
2002 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
|
7477983 |
1995 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.
|
10894999 |
2000 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.
|
11723288 |
2001 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
|
9099841 |
1997 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
|
8162049 |
1994 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
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 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.
|
11325342 |
2001 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
|
7833935 |
1994 |
|
rs863224974
|
|
Charcot-Marie-Tooth disease, X-linked, 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.
|
10093067 |
1998 |