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Novel SCC mutation in a patient of Mexican descent with sex reversal, salt-losing crisis and adrenal failure
Congenital adrenal hyperplasia (CAH) is caused by mutations in cytochrome P450 side chain cleavage enzyme (CYP11A1 and old name, SCC). Errors in cholesterol side chain cleavage by the mitochondrial resident CYP11A1 results in an inadequate amount of pregnenolone production. This study was performed...
Guardat en:
| Publicat a: | Endocrinol Diabetes Metab Case Rep |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Bioscientifica Ltd
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5093401/ https://ncbi.nlm.nih.gov/pubmed/27855232 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-16-0059 |
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