Associated Papers
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.
Brozková D et al.
Genetic Testing and Molecular Biomarkers, 2010
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
Morley SM et al.
The British Journal of Dermatology, 2005
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