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) Loreto Martorell and Maria T. Nascimento and Roser Colome,Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling,Journal of human genetics,14345161,Tokyo : Springer Nature,2011-01,56,1,87-90,https://cir.nii.ac.jp/crid/1523951029472561536,