17α-羟化酶/17,20-裂解酶缺乏症：从临床研究到分子定义 - Suppr

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超能文献

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.

作者信息

Yanase T, Simpson E R, Waterman M R

机构信息

Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.

出版信息

Endocr Rev. 1991 Feb;12(1):91-108. doi: 10.1210/edrv-12-1-91.

DOI:10.1210/edrv-12-1-91

PMID:2026124

Abstract

摘要

相似文献

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.17α-羟化酶/17,20-裂解酶缺乏症：从临床研究到分子定义

Endocr Rev. 1991 Feb;12(1):91-108. doi: 10.1210/edrv-12-1-91.

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.由于细胞色素P45017α（CYP17）基因N端区域7个碱基对重复导致的联合17α-羟化酶/17,20-裂解酶缺乏症。

J Clin Endocrinol Metab. 1990 May;70(5):1325-9. doi: 10.1210/jcem-70-5-1325.

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

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Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.两个门诺派家族中联合 17α-羟化酶/17,20-裂解酶缺乏症的共同分子基础鉴定

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17 alpha-Hydroxylase/17,20-lyase defects.17α-羟化酶/17,20-裂解酶缺陷

J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):153-7. doi: 10.1016/0960-0760(95)00029-y.

Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.正常和突变型人甾体17α-羟化酶基因的结构特征：17α-羟化酶/17,20裂解酶联合缺乏症一个实例的分子基础

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Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.

Mol Endocrinol. 1991 Dec;5(12):2037-45. doi: 10.1210/mend-5-12-2037.

Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.细胞色素P450 17α-羟化酶基因中杂合终止密码子导致的联合17α-羟化酶/17,20-裂解酶缺乏症。

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Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.

J Clin Endocrinol Metab. 1996 Jan;81(1):264-8. doi: 10.1210/jcem.81.1.8550762.

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.由于17α-羟化酶细胞色素P-450 N端区域的一个终止密码子导致的联合17α-羟化酶/17,20-裂解酶缺乏症。

Mol Cell Endocrinol. 1988 Oct;59(3):249-53. doi: 10.1016/0303-7207(88)90110-4.

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