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) SLY W. S.,Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.,New Engl J Med,,,1985,313,,139-145,https://cir.nii.ac.jp/crid/1571980074386275840,