Associated Papers
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.
Sagnelli A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Mutation in connexin 32 causes Charcot-Marie-Tooth disease in a large Chinese family.
Guo F et al.
Muscle & Nerve, 2010
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
Prasad S et al.
Human Mutation, 2000
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
Sorour E et al.
Human Mutation, 1998
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