Author,Title,Journal,ISSN,Publisher,Date,Volume,Number,Page,URL,URL(DOI)
William S. Sly and Michael P. Whyte and Vasantha Sundaram and Richard E. Tashian and David Hewett-Emmett and Pierre Guibaud and Marc Vainsel and H. Jorge Baluarte and Alan Gruskin and M. Al-Mosawi and Nadia Sakati and Arne Ohlsson,Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification,New England Journal of Medicine,0028-4793,Massachusetts Medical Society,1985-07-18,313,3,139-145,https://cir.nii.ac.jp/crid/1360579819605556480,https://doi.org/10.1056/nejm198507183130302