Erythrocyte carbonic anhydrase I: inherited deficiency in humans.
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.
D002256:Carbonic Anhydrases / Q000097:blood / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology*; D005796:Genes; D006801:Humans; D007527:Isoenzymes / Q000097:blood / Q000172:deficiency; D010375:Pedigree; D013974:Thyroxine / Q000097:blood
D007527:Isoenzymes; D002256:Carbonic Anhydrases; D013974:Thyroxine