红细胞碳酸酐酶I：人类中的遗传性缺乏症。
Erythrocyte carbonic anhydrase I: inherited deficiency in humans.
作者信息
Kendall A G, Tashian R E
出版信息
Science. 1977 Jul 29;197(4302):471-2. doi: 10.1126/science.406674.
PMID: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.
摘要
据报道，来自希腊伊卡里亚岛的一个家族的三名成员几乎完全缺乏红细胞碳酸酐酶I。两名水平中度降低的成员被认为是该缺陷的杂合子。严重缺乏状态没有明显的血液学或肾脏后果。
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