The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel

Altamura, C; Lucchiari, S; Sahbani, D; Ulzi, G; Comi, GP; D'Ambrosio, P; Petillo, R; ... Desaphy, J-F; + view all Altamura, C; Lucchiari, S; Sahbani, D; Ulzi, G; Comi, GP; D'Ambrosio, P; Petillo, R; Politano, L; Vercelli, L; Mongini, T; Dotti, MT; Cardani, R; Meola, G; Lo Monaco, M; Matthews, E; Hanna, MG; Carratù, MR; Conte, D; Imbrici, P; Desaphy, J-F; - view fewer (2018) The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel. Human Mutation , 39 (9) pp. 1273-1283. 10.1002/humu.23581 .

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