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Glucose-6-phosphate dehydrogenase deficiency in a native Danish family. A new variant.

作者信息

Cohn J, Carter N, Warburg M

出版信息

Scand J Haematol. 1979 Nov;23(5):403-6. doi: 10.1111/j.1600-0609.1979.tb02740.x.

Abstract

Deficiency of red cell glucose-6-phosphate dehydrogenase was found in a native Danish family, in which 2 boys suffered from severe haemolytic anaemia. The mother and 3 sisters of the boys were heterozygotes for G-6-PD deficiency. The biochemical investigations indicate that this deficient G-6-PD is very similar to the Mediterranean variant; however, this variant gene may represent another example of G-6-PD 'Helsinki' or an unique variant with properties similar to G-6-PD B(--).

摘要

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