意大利葡萄糖-6-磷酸脱氢酶（G6PD）的新基因变体
New genetic variants of glucose 6-phosphate dehydrogenase (G6PD) in Italy.
作者信息
Sansone G, Perroni L, Testa U, Mareni C, Luzzatto L
出版信息
Ann Hum Genet. 1981 May;45(2):97-104. doi: 10.1111/j.1469-1809.1981.tb00310.x.
Abstract
Six new variants of human erythrocyte G6PD have been characterized. All of them were found in Italian males and all were associated with enzyme deficiency, but only two with signs of haemolysis. These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent.
摘要
已鉴定出六种人类红细胞葡萄糖-6-磷酸脱氢酶（G6PD）的新变体。所有这些变体均在意大利男性中发现，且都与酶缺乏有关，但只有两种伴有溶血迹象。文献中报道的这些以及其他变体，目前只能被视为散发性的，它们被发现分布在意大利的某些地区，而这些地区也是常见类型的G6PD缺乏症的高发区。
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