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E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

作者信息

Kirby-Keyser L, Porter C C, Donohoue P A

机构信息

Department of Pediatrics, University of Iowa College of Medicine, Iowa City 52242, USA.

出版信息

Hum Mutat. 1997;9(2):181-2. doi: 10.1002/(SICI)1098-1004(1997)9:2<181::AID-HUMU12>3.0.CO;2-Z.

DOI:10.1002/(SICI)1098-1004(1997)9:2<181::AID-HUMU12>3.0.CO;2-Z
PMID:9067760
Abstract
摘要

相似文献

1
E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hum Mutat. 1997;9(2):181-2. doi: 10.1002/(SICI)1098-1004(1997)9:2<181::AID-HUMU12>3.0.CO;2-Z.
2
Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism.细胞色素P450 21B（类固醇21-羟化酶）内的第7外显子Ncol限制性酶切位点是一种正常的多态性。
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3
Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.CYP21基因的剪接突变与失盐型先天性肾上腺皮质增生症的延迟表现相关。
Am J Med Genet. 1995 Jul 3;57(3):450-4. doi: 10.1002/ajmg.1320570318.
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Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.与先天性肾上腺皮质增生症（CAH）相关的HLA单倍型中CYP21基因的改变：一项家系研究。
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Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.失盐型先天性肾上腺皮质增生症：利用聚合酶链反应检测类固醇21-羟化酶基因CYP21中的突变并进行特征分析。
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Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia.一名患有失盐型先天性肾上腺皮质增生症的芬兰患者，其类固醇21-羟化酶基因中出现新型无义突变（W302X）。
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7
[Congenital dysfunction of adrenal cortex - detection of new mutant gene of 21-hydroxylase].[先天性肾上腺皮质功能障碍——21-羟化酶新突变基因的检测]
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[HLA haplotypes in congenital adrenal hyperplasia (21-hydroxylase deficiency].
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Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.
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Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.台湾单纯性男性化型先天性肾上腺皮质增生症中CYP21基因纯合和复合杂合突变的分子鉴定
Acta Paediatr Taiwan. 2003 Nov-Dec;44(6):339-42.

引用本文的文献

1
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.先天性肾上腺皮质增生症（CAH）由于 21-羟化酶缺乏症：对 CYP21A2 基因的 233 种致病性变异的全面关注。
Mol Diagn Ther. 2018 Jun;22(3):261-280. doi: 10.1007/s40291-018-0319-y.