?url_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.au=Altamura%2C+C&rft.aufirst=C&rft.aulast=Altamura&rft.pages=1273-1283&rft.date=September+2018&rft.issn=1059-7794&rft.atitle=The+analysis+of+myotonia+congenita+mutations+discloses+functional+clusters+of+amino+acids+within+the+CBS2+domain+and+the+C%E2%80%90terminal+peptide+of+the+ClC%E2%80%901+channel&rft.title=Human+Mutation&rft.issue=9&rft.volume=39&rft.genre=article