Erythrocyte Carbonic Anhydrase I: Inherited Deficiency in Humans
- 29 July 1977
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 197 (4302), 471-472
- https://doi.org/10.1126/science.406674
Abstract
The virtually complete absence of erythrocyte carbonic anhydrase I is reported in three members of a family from the Greek island of Icaria. Two members with moderately reduced levels are believed to be heterozygous for the deficiency. There are no obvious hematological or renal consequences of the severe deficiency state.Keywords
This publication has 12 references indexed in Scilit:
- Evolution of mammalian carbonic anhydrase loci by tandem duplication: Close linkage of Car-1 and Car-2 to the centromere region of chromosome 3 of the mouseBiochemical Genetics, 1976
- Inhibition by Anions of Human Red Cell Carbonic Anhydrase B: Physiological and Biochemical ImplicationsScience, 1976
- Characterisation of carbonic anhydrases from tissues of the catBiochimica et Biophysica Acta (BBA) - Enzymology, 1975
- Amino acid sequence of sheep carbonic anhydrase CBiochimica et Biophysica Acta (BBA) - Protein Structure, 1974
- Haemoglobin Icaria, a new chain-termination mutant which causes α thalassaemiaNature, 1974
- Enzymatically Inactive Red Cell Carbonic Anhydrase B in a Family with Renal Tubular AcidosisJCI Insight, 1974
- Deficiency of a carbonic anhydrase (CAI) isoenzyme in the chinchillaAnimal Blood Groups and Biochemical Genetics, 1974
- CARBONIC ANHYDRASE:ISOENZYMES. PROPERTIES. DISTRIBUTION. AND FUNCTIONAL SIGNIFICANCEBiological Reviews, 1972
- The carbonic anhydrase in the rumen epithelial tissue of the oxBiochimica et Biophysica Acta (BBA) - Enzymology, 1971
- Carbonic anhydrase: chemistry, physiology, and inhibitionPhysiological Reviews, 1967