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CYP21 in Biological Technology

Detection of Mutations in the CYP21 Gene Using the DCode System

Gita Ohlsson and Marianne Schwartz, Department of Clinical Genetics, Juliane Marie Center, University Hospital, Rigshospitalet, Copenhagen, Denmark Introduction Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficie...
CYP21 in other areas

Genotyping of CYP21, Linked Chromosome 6p Markers, and a Sex-Specific ...

CYP21 PCR products were subjected to ligase detection reaction, simultaneously ... Genotyping of CYP21 for the nine most commonly detected mutations causing CAH ...

The Spectrum of Molecular Defects of the CYP21 Gene in the Hellenic ...

The CYP21 gene is located on the short arm of chromosome 6, within the region of ... Both CYP21 and CYP21P contain 10 exons and 9 introns, covering a distance ...

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... an array (C4A, CYP21P, XA, C4B, CYP21 and XB) ... The relationship between CYP21 and X genes is most unusual since these genes ... Mutations in the CYP21 gene ...

WV DHHR - OMCFH - Newborn Metabolic Screening - Congenital Adrenal ...

CYP21 genotyping is not currently used in newborn screening, but it may be ... Carrier testing for CAH is performed most accurately using CYP21 genotyping. ...

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency ...

The latter is 21-hydroxylated by CYP21 to form 11-deoxycortisol, which is ... The frequency of germline mutations in CYP21 in such patients is low (157) ...

Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal ...

None of these samples exhibited the genetic pattern consistent with CYP21 deficiency. ... lightcycler real-time pcr assay to detect large deletions of the cyp21 gene ...
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