{"title":"导致非经典21-羟化酶缺乏症的CYP21基因两点突变的非同位素鉴定","authors":"Shevtsov S.P., Rechitsky S., Verlinsky O., Schwartz E.I.","doi":"10.1006/bmmb.1994.1037","DOIUrl":null,"url":null,"abstract":"<div><p>A simple nonradioactive method was developed for identification of the Pro-30-Leu and Val-281-Leu mutant alleles in the CYP21B gene. Not only does this approach improve mutation analysis for patients with the late onset form of 21-hydroxylase deficiency, but it also decreases problems with interference by the CYP21A pseudogene sequence.</p></div>","PeriodicalId":8752,"journal":{"name":"Biochemical medicine and metabolic biology","volume":"52 2","pages":"Pages 85-88"},"PeriodicalIF":0.0000,"publicationDate":"1994-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmmb.1994.1037","citationCount":"0","resultStr":"{\"title\":\"Nonisotopic Identification of Two Point Mutations in the CYP21 Gene Responsible for Nonclassic 21-Hydroxylase Deficiency\",\"authors\":\"Shevtsov S.P., Rechitsky S., Verlinsky O., Schwartz E.I.\",\"doi\":\"10.1006/bmmb.1994.1037\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>A simple nonradioactive method was developed for identification of the Pro-30-Leu and Val-281-Leu mutant alleles in the CYP21B gene. Not only does this approach improve mutation analysis for patients with the late onset form of 21-hydroxylase deficiency, but it also decreases problems with interference by the CYP21A pseudogene sequence.</p></div>\",\"PeriodicalId\":8752,\"journal\":{\"name\":\"Biochemical medicine and metabolic biology\",\"volume\":\"52 2\",\"pages\":\"Pages 85-88\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1994-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1006/bmmb.1994.1037\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biochemical medicine and metabolic biology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0885450584710371\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochemical medicine and metabolic biology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0885450584710371","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Nonisotopic Identification of Two Point Mutations in the CYP21 Gene Responsible for Nonclassic 21-Hydroxylase Deficiency
A simple nonradioactive method was developed for identification of the Pro-30-Leu and Val-281-Leu mutant alleles in the CYP21B gene. Not only does this approach improve mutation analysis for patients with the late onset form of 21-hydroxylase deficiency, but it also decreases problems with interference by the CYP21A pseudogene sequence.
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