β地中海贫血中β珠蛋白mRNA异常或缺失以及δβ地中海贫血中的基因缺失。
Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia.
作者信息
Ramirez F, O'Donnell J V, Marks P A, Bank A, Musumeci S, Schilirò G, Pizzarelli G, Russo G, Luppis B, Gambino R
出版信息
Nature. 1976 Oct 7;263(5577):471-5. doi: 10.1038/263471a0.
DOI:10.1038/263471a0
PMID:985635
Abstract
In patients with betao thalassaemia from Ferrara, beta globin mRNA sequences are either absent or structurally abnormal while in betao thalassaemia in Catania, beta globin mRNA sequences are present. In deltabeta thalassaemia there is a deletion of beta-like globin genes, while in betao Catania DNA, no beta globin gene deletion is detectable.
摘要
在来自费拉拉的β⁰型地中海贫血患者中，β珠蛋白mRNA序列要么缺失，要么结构异常，而在卡塔尼亚的β⁰型地中海贫血患者中，β珠蛋白mRNA序列是存在的。在δβ型地中海贫血中，存在类β珠蛋白基因的缺失，而在卡塔尼亚的β⁰型地中海贫血DNA中，未检测到β珠蛋白基因缺失。
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