Associated Papers
Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.
Nozaki I et al.
Internal Medicine (tokyo, Japan), 2023
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
Caramins M et al.
Human Molecular Genetics, 2013
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.
Primignani P et al.
The Laryngoscope, 2007
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K et al.
Human Mutation, 1998
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