Author:
Soda Hiroko,Yukizane Shigenori,Yoshida Ichiro,Koga Yasutoshi,Aramaki Shuichi,Kato Hirohisa
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. Aramaki S, Yoshida I, Yoshino M, Kondo M, Sato Y, Noda K, Jo R (1993) Carbonic anhydrase II deficiency in three unrelated Japanese patients. J Inherit Metab Dis 16:982–990
2. Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P, Sly WS (1992) A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum Mutat 1:288–292
3. Hu PY, Ernst AR, Sly WS, Venta PJ, Skaggs LA, Tashian RE (1994) Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. Am J Hum Genet 54:602–608
4. Maren TH (1960) A simplified method for the determination of carbonic anhydrase and its inhibitors. J Pharmacol Exp Ther 130:26–29
5. Roth DE, Venta PJ, Tashian RE, Sly WS (1992) Molecular basis of human carbonic anhydrase II deficiency. Proc Natl Acad Sci USA 89:1804–1808
Cited by
12 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献