Author:
Strisciuglio P.,Hu P.Y.,Lim E.J.,Ciccolella J.,Sly W.S.
Subject
Pediatrics, Perinatology and Child Health
Reference13 articles.
1. Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?;Strisciuglio;Eur J Pediatr,1990
2. Molecular basis of human carbonic anhydrase H deficiency;Roth;Proc Natl Acad Sci USA,1992
3. Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His> Tyr): complete structure of the normal human CA II gene;Venta;Am J Hum Genet,1991
4. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries;Hu;Hum Mutat,1992
5. Carbonic anhydrase II deficiency: single base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients;Hu;Am J Hum Genet,1994
Cited by
22 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