著者名,タイトル,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Ashton-Prolla,Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes,J. Investig. Med.,,,2000,48,,227,https://cir.nii.ac.jp/crid/1370850330565737606,