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)
Priya T Bhola and Taila Hartley and Eric Bareke and Care4Rare Canada Consortium and Kym M Boycott and Sarah M Nikkel and David A Dyment,"Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1",Journal of human genetics,14345161,Tokyo : Springer Nature,2017-06,62,6,661-663,https://cir.nii.ac.jp/crid/1522825130474162688,