Associated Papers
Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.
Hu G et al.
Clinical Neurology and Neurosurgery, 2019
Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
Lu YY et al.
Chinese Medical Journal, 2017
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
Lai A et al.
Journal of Cell Science, 2006
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA et al.
American Journal of Human Genetics, 2003
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