MUTATIONS IN CONNEXIN 32: THE MOLECULAR AND BIOPHYSICAL BASES FOR THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE

2000 ◽  
Vol 5 (4) ◽  
pp. 246-247
Author(s):  
Ck Abrams ◽  
S Oh ◽  
Y Ri ◽  
Ta Bargiello
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

1997 ◽  
Vol 100 (3-4) ◽  
pp. 391-397 ◽  
Author(s):  
K. Silander ◽  
P�ivi Meretoja ◽  
Helena Pihko ◽  
Vesa Juvonen ◽  
Jouni Issakainen ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32

2003 ◽  
Vol 23 (33) ◽  
pp. 10548-10558 ◽  
Author(s):  
Charles K. Abrams ◽  
Mona Freidin ◽  
Feliksas Bukauskas ◽  
Kostantin Dobrenis ◽  
Thaddeus A. Bargiello ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Differential Effects ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

Neurogenetics ◽  
2010 ◽  
Vol 11 (4) ◽  
pp. 465-470 ◽  
Author(s):  
Claudia Gonzaga-Jauregui ◽  
Feng Zhang ◽  
Charles F. Towne ◽  
Sat Dev Batish ◽  
James R. Lupski
Keyword(s):  
Connexin 32 ◽  
Gene Deletions ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence

2001 ◽  
Vol 185 (1) ◽  
pp. 31-37 ◽  
Author(s):  
Masanori Nakagawa ◽  
Hiroshi Takashima ◽  
Fujio Umehara ◽  
Kimiyoshi Arimura ◽  
Fumio Miyashita ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Coding Sequence ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Four novel connexin 32 mutations in X–linked Charcot–Marie–Tooth disease with phenotypic variability

2005 ◽  
Vol 253 (2) ◽  
pp. 263-264 ◽  
Author(s):  
G. Karadima ◽  
M. Panas ◽  
P. Floroskufi ◽  
N. Kalfakis ◽  
D. Vassilopoulos
Keyword(s):  
Phenotypic Variability ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

Neurology ◽  
1999 ◽  
Vol 52 (5) ◽  
pp. 1010-1010 ◽  
Author(s):  
T. Stojkovic ◽  
P. Latour ◽  
A. Vandenberghe ◽  
J. F. Hurtevent ◽  
P. Vermersch
Keyword(s):  
Sensorineural Deafness ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation Ile127Ser in theGJB1 (connexin 32) gene

2005 ◽  
Vol 31 (2) ◽  
pp. 252-255 ◽  
Author(s):  
Petr Vondracek ◽  
Pavel Seeman ◽  
Marketa Hermanova ◽  
Lenka Fajkusova
Keyword(s):  
Novel Mutation ◽  
Phenotypic Expression ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1)

1994 ◽  
Vol 3 (1) ◽  
pp. 29-34 ◽  
Author(s):  
N. Fairweather ◽  
C. Bell ◽  
S. Cochrane ◽  
J. Chelly ◽  
S. Wang ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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