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)
Frank Rutsch and Mary MacDougall and Changming Lu and Insa Buers and Olga Mamaeva and Yvonne Nitschke and Gillian I. Rice and Heidi Erlandsen and Hans Gerd Kehl and Holger Thiele and Peter Nürnberg and Wolfgang Höhne and Yanick J. Crow and Annette Feigenbaum and Raoul C. Hennekam,A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome,The American Journal of Human Genetics,0002-9297,Elsevier BV,2015-02,96,2,275-282,https://cir.nii.ac.jp/crid/1361418521344453376,https://doi.org/10.1016/j.ajhg.2014.12.014