性联鱼鳞病中的类固醇硫酸酯酶缺乏症。
Steroid-sulfatase deficiency in sex-linked ichthyosis.
作者信息
Kubilus J, Tarascio A J, Baden H P
出版信息
Am J Hum Genet. 1979 Jan;31(1):50-3.
Abstract
Steroid-sulfatase activity was absent in the cultured fibroblasts of nine affected members of eight families with sex-linked ichthyosis. An intermediate value of enzyme activity was found in an obligate heterozygote and a normal value in a patient with ichthyosis vulgaris. Cultured epidermal cells of an affected individual also had no enzyme activity, while normal cultured epidermal cells did.
摘要
在8个患有性连锁鱼鳞病家族的9名患病成员的培养成纤维细胞中，类固醇硫酸酯酶活性缺失。在一名必然杂合子中发现酶活性处于中间值，而在一名寻常型鱼鳞病患者中酶活性值正常。一名患病个体的培养表皮细胞也没有酶活性，而正常培养的表皮细胞则有。
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