肝红细胞生成性卟啉症是迟发性皮肤卟啉症的纯合子形式吗？一个西班牙家庭中尿卟啉原脱羧酶缺乏症的遗传情况。
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.
作者信息
Lazaro P, de Salamanca R E, Elder G H, Villaseca M L, Chinarro S, Jaqueti G
出版信息
Br J Dermatol. 1984 May;110(5):613-7. doi: 10.1111/j.1365-2133.1984.tb04687.x.
Abstract
A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity.
摘要
本文描述了一名患有肝红细胞生成性卟啉症（HEP）的患者。通过家系研究表明，他对于一种导致红细胞尿卟啉原脱羧酶活性被抑制超过95%的基因是纯合子。
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