血红蛋白贝塞斯达，β145（HC2）位的酪氨酸被组氨酸取代，发现于一个加拿大家庭。
Hemoglobin Bethesda, beta 145 (HC2) Tyr replaced by His, in a Canadian family.
作者信息
Schmidt R M, Jue D L, Ali M A, Lyonnais J, Moo-Penn W F
出版信息
Am J Clin Pathol. 1976 Aug;66(2):449-52. doi: 10.1093/ajcp/66.2.449.
PMID:949044
Abstract
A hemoglobin mutant with the mobility of hemoglobin (Hb) A on alkaline cellulose acetate or starch gel electrophoresis and mobility between Hb A and Hb S on citrate agar electrophoresis was detected in a patient with erythrocytosis. Structural analysis shows a substitution of histidine by tyrosine at position 145 in the beta-chain.
摘要
在一名红细胞增多症患者中检测到一种血红蛋白突变体，该突变体在碱性醋酸纤维素或淀粉凝胶电泳上具有血红蛋白（Hb）A的迁移率，而在柠檬酸盐琼脂电泳上的迁移率介于Hb A和Hb S之间。结构分析显示β链第145位的组氨酸被酪氨酸取代。
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