换一批
换一批A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
作者：
关键词
17-OHP17-hydroxyprogesterone21-Hydroxylase deficiency21-hydroxylase deficiency21OHD30-kb deletion3′ untranslated3′UTR5′ untranslated5′UTRACTHASO-PCRAdrenocorticotropic HormoneCAHCYP21A1PCYP21A2 geneCongenital adrenal hyperplasiaDHEASDehydroepiandrosterone SulfateMLPAMultiplex Ligation dependent Probe AmplificationNCRCCX moduleRFLPRP, C4, CYP21 and TNX genesSVSWallele specific oligonucleotide polymerase chain reactioncongenital adrenal hyperplasiadeletion of 30-kb including 3′-end CYP21A1P, C4B, and 5′-end CYP21A2non-classicalrestriction fragment length polymorphismsalt-wastingsimple-virilizing
主题词
青少年(Adolescent);肾上腺增生, 先天性(Adrenal Hyperplasia, Congenital);等位基因(Alleles);儿童(Child);儿童, 学龄前(Child, Preschool);外显子(Exons);基因型(Genotype);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);内含子(Introns);表型(Phenotype);点突变(Point Mutation);聚合酶链反应(Polymerase Chain Reaction);启动区, 遗传(Promoter Regions, Genetic);类固醇21-羟化酶(Steroid 21-Hydroxylase);青年人(Young Adult)
DOI
10.1016/j.gene.2013.03.082
PMID
23570880
发布时间
2016-11-25
- 浏览165
Gene
239-45页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
