Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.
Steroid 21-hydroxylase deficiency is a major cause of congenital adrenal hyperplasia and is caused by genetic impairment of this enzyme. Since approximately 80% of cases are caused by point mutations of the CYP21B (CYP21A2) gene, whereas the remaining 20% are due to deletion of this gene, we used th...
Enregistré dans:
| Publié dans: | J Clin Invest |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society for Clinical Investigation
1993
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288397/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8227333/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116820 |
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