A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel
Author:
Affiliation:
1. Istituto di Biofisica; CNR; Genova Italy
Funder
Compagnia di San Paolo
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23589/fullpdf
Reference53 articles.
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3. Identification of an intra-molecular disulfide bond in the sodium channel beta1-subunit;Barbieri;Biochemical and Biophysical Research Communications,2012
4. Molecular differential expression of voltage-gated sodium channel α and β subunit mRNAs in five different mammalian cell lines;Baroni;Journal of Bioenergetics and Biomembranes,2011
5. Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit;Baroni;Journal of Bioenergetics and Biomembranes,2013
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