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) Yuichiro Hirose and Eiji Nakashima and Hirofumi Ohashi,Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia,Journal of human genetics,14345161,Tokyo : Springer Nature,2006,51,8,706-710,https://cir.nii.ac.jp/crid/1521136280882999296,