HAEMOGLOBIN CONSTANT SPRING - CHAIN TERMINATION MUTANT
HAEMOGLOBIN CONSTANT SPRING - CHAIN TERMINATION MUTANT
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DOI：
10.1038/234337a0
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发表时间：
1971-01-01
期刊：
影响因子：
64.8
通讯作者：
MILNER, PF
中科院分区：
文献类型：
--
作者：
CLEGG, JB;WEATHERALL, DJ;MILNER, PF
血红蛋白恒定弹簧是一种罕见的变体，在杂合子中仅占总血红蛋白的1-2%。它的α链长172个残基，而不是正常的141个残基，当它与α地中海贫血基因一起遗传时，它会引起血红蛋白H病。
Haemoglobin Constant Spring is an unusual variant which comprises only 1–2% of the total haemoglobin in heterozygotes. It has α-chains which are 172 residues long instead of the normal 141, and when it is inherited together with an α-thalassaemia gene it gives rise to haemoglobin H disease.