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) Peiyi Y. Hu and E. Justin Lim and Jessica Ciccolella and Pietro Strisciuglio and William S. Sly,Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis,Human Mutation,1059-7794,Hindawi Limited,1997,9,5,383-387,https://cir.nii.ac.jp/crid/1360861294247003520,https://doi.org/10.1002/(sici)1098-1004(1997)9:5<383::aid-humu1>3.0.co;2-5