Four is not more than two.
作者信息
Russell D W, White P C
出版信息
Am J Hum Genet. 1995 Nov;57(5):1002-5.
Abstract
摘要
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Four is not more than two.四不超过二。
Am J Hum Genet. 1995 Nov;57(5):1002-5.
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Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency.编码P450c11AS的CYP11B2基因中的基因转换与皮质酮甲基氧化酶II缺乏综合征相关，但并非导致该综合征的原因。
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Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.苏氨酸-185异亮氨酸突变与II型皮质酮甲基氧化酶缺乏症相关。
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A polymorphic poly-A sequence in the 5' region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11 beta-hydroxylase genes defects.醛固酮合成酶（CYP11B2）基因5'区域的一个多态性多聚腺苷酸序列可能有助于11β-羟化酶基因缺陷的基因诊断。
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An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase.由类固醇11β-羟化酶基因内或其附近的突变引起的醛固酮生物合成的遗传性缺陷。
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Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.
Biochem Biophys Res Commun. 1993 Feb 15;190(3):864-9. doi: 10.1006/bbrc.1993.1128.
3
Disorders of aldosterone biosynthesis and action.醛固酮生物合成与作用障碍。
N Engl J Med. 1994 Jul 28;331(4):250-8. doi: 10.1056/NEJM199407283310408.
4
Disorders of steroid 11 beta-hydroxylase isozymes.类固醇11β-羟化酶同工酶紊乱。
Endocr Rev. 1994 Aug;15(4):421-38. doi: 10.1210/edrv-15-4-421.
5
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism.致死性家族性失眠症与家族性克雅氏病：由DNA多态性决定的不同朊病毒蛋白。
Proc Natl Acad Sci U S A. 1994 Mar 29;91(7):2839-42. doi: 10.1073/pnas.91.7.2839.
6
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency.醛固酮合酶中的氨基酸替代R384P导致I型皮质酮甲基氧化酶缺乏。
J Clin Endocrinol Metab. 1995 Feb;80(2):424-9. doi: 10.1210/jcem.80.2.7852500.
7
8
9
Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes.血红蛋白S安的列斯变种：一种溶解度低于血红蛋白S且在杂合子中引发镰状细胞病的变体。
Proc Natl Acad Sci U S A. 1986 Dec;83(24):9363-7. doi: 10.1073/pnas.83.24.9363.
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An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase.由类固醇11β-羟化酶基因内或其附近的突变引起的醛固酮生物合成的遗传性缺陷。
N Engl J Med. 1988 Nov 3;319(18):1193-7. doi: 10.1056/NEJM198811033191804.
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