Author:
Alsharidi Aynaa,Al-Hamed Mohammad,Alsuwaida Abdulkareem
Publisher
Springer Science and Business Media LLC
Subject
General Earth and Planetary Sciences,General Environmental Science
Reference12 articles.
1. Sly WS, Hewett-Emmett D, Whyte MP, Yu Y-SL, Tashian RE. Carbonic anhydrase II deficiency identified as the Primary defect in the autosomal recessive syndrome of osteoporosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA. 1983;80:2752–6.
2. Hu PY, Roth DE, Skaggs LA, et al. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum Mutat. 1992;1(4):288–92.
3. Venta PJ, Shows TB, Curtis PJ, Taishan RE. Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. Proc Natl Acad Sci USA. 1983;80:4437–40.
4. Sly WS, Lang R, Avioli L, Haddad J, Lubowitz H, McAlister W. Recessive osteopetrosis: new clinical phenotype. Am J Hum Genet. 1972;24(Suppl):34a.
5. Guibaud P, Larbre F, Freycon MT, Genoud J. Osteopetrose et acidoserenaletubulaire: deuxcas de cette association dansunefratrie. Archives Francaises de Pediatric. 1972;29:269–86.
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