Erythrocyte carbonic anhydrase I: inherited deficiency in humans

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Science  29 Jul 1977:
Vol. 197, Issue 4302, pp. 471-472
DOI: 10.1126/science.406674


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.