Congenital adrenal hyperplasia (Second of two parts) Journal Article
| Authors: | White, P. C.; New, M. I.; Dupont, B. |
| Article Title: | Congenital adrenal hyperplasia (Second of two parts) |
| Abstract: | (Second of Two Parts) Molecular Genetics of 21-Hydroxylase Deficiency It has been demonstrated that the HLA-linked defect in 21-hydroxylase deficiency involves a structural gene for the corresponding cytochrome P450 (P450c21). A bovine cDNA clone was isolated that encoded part of this enzyme (i.e., “complementary DNA,” corresponding to the messenger RNA for P450c21, linked to sequences that allowed this DNA to replicate autonomously in bacteria).52 DNA samples were extracted from leukocytes obtained from normal persons and from patients with 21-hydroxylase deficiency who carried the characteristic HLA haplotype A3;Bw47:DR7. These samples were analyzed with use of Southern blot hybridization.4,53 For this analysis,... © 1987, Massachusetts Medical Society. All rights reserved. |
| Keywords: | child; review; molecular genetics; age; genetic engineering; diagnosis; newborn; sex difference; therapy; endocrine system; etiology; human; priority journal; congenital adrenal hyperplasia; congenital disorder; steroid 21 monooxygenase deficiency; 3(or 17)beta hydroxysteroid dehydrogenase |
| Journal Title: | New England Journal of Medicine |
| Volume: | 316 |
| Issue: | 25 |
| ISSN: | 0028-4793 |
| Publisher: | Massachusetts Medical Society |
| Date Published: | 1987-06-18 |
| Start Page: | 1580 |
| End Page: | 1586 |
| Language: | English |
| DOI: | 10.1056/nejm198706183162506 |
| PUBMED: | 3295546 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Review -- Export Date: 5 February 2021 -- Source: Scopus |
