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) R. Wenstrup,A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I),Human Molecular Genetics,1460-2083,Oxford University Press (OUP),1996-11-01,5,11,1733-1736,https://cir.nii.ac.jp/crid/1363670320651802368,https://doi.org/10.1093/hmg/5.11.1733