Molecular genetics of acute intermittent porphyria.
作者信息
Goldberg A
出版信息
Br Med J (Clin Res Ed). 1985 Aug 24;291(6494):499-500. doi: 10.1136/bmj.291.6494.499-a.
Abstract
摘要
相似文献
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本文引用的文献
1
Acute intermittent porphyria: a study of 50 cases.
Q J Med. 1959 Apr;28(110):183-209.
2
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.患有急性间歇性卟啉症的家族中的正常红细胞尿卟啉原I合酶
Ann Intern Med. 1981 Aug;95(2):162-6. doi: 10.7326/0003-4819-95-2-162.
3
Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.急性间歇性卟啉病中胆色素原脱氨酶缺乏的特征。遗传缺陷异质性的免疫学证据。
J Clin Invest. 1981 Jul;68(1):1-12. doi: 10.1172/jci110223.
4
Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.潜伏性急性间歇性卟啉病的筛查：同时检测白细胞δ-氨基乙酰丙酸合酶和红细胞尿卟啉原-1-合酶活性的价值。
J Med Genet. 1982 Aug;19(4):271-6. doi: 10.1136/jmg.19.4.271.
5
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.人胆色素原脱氨酶和酯酶A4在染色体11q23至11q末端的区域基因定位。
Proc Natl Acad Sci U S A. 1981 Sep;78(9):5734-8. doi: 10.1073/pnas.78.9.5734.
6
Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism.间歇性急性卟啉病——胆色素原代谢遗传缺陷的证明
N Engl J Med. 1972 Jun 15;286(24):1277-82. doi: 10.1056/NEJM197206152862401.
7
17-Oxosteroid conjugates in plasma and urine of patients with acute intermittent porphyria.急性间歇性卟啉症患者血浆和尿液中的17-氧代类固醇结合物
Clin Sci Mol Med. 1974 Feb;46(2):207-22. doi: 10.1042/cs0460207.
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