Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. It results from a deficiency in a specific cytochrome P450, P450c21 (P450XXIA). The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) are located in the HLA complex on chromosome...
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| 出版年: | Proc Natl Acad Sci U S A |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
National Academy of Sciences
1988
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC279821/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3257825/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.85.5.1600 |
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