著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Raffaella Brugnoni and Dimos Kapetis and Paola Imbrici,A large cohort of myotonia congenita probands : novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene,Journal of human genetics,14345161,Tokyo : Springer Nature,2013-09,58,9,581-587,https://cir.nii.ac.jp/crid/1521417753485160064,