Associated Papers
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Liu L et al.
Clinical Genetics, 2017
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
[Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].
Zhan YJ et al.
Zhonghua Yi Xue Za Zhi, 2012
[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].
Khidiianova IM et al.
Genetika, 2008
The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions.
Ri Y et al.
Biophysical Journal, 1999
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