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CMTX1
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Charcot-Marie-Tooth gonosomal dominant type (CMTX1) - First findings of mutations in the gene for connexin 32 in the Czech Republic
2000 |
Second Faculty of Medicine
publication
Six new GJB1 mutations and their phenotypic expression in Czech CMTX1 patients
2010 |
Faculty of Medicine in Pilsen
publication
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
2013 |
Faculty of Science, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation IIe127Ser in the GJB1 (connexin 32) gene
2005 |
Second Faculty of Medicine
publication
Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease
2010 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing
2001 |
Second Faculty of Medicine