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In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS)
Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders in humans, and 21-hydroxylase deficiency (21-OHD) accounts for 90 to 95% of all cases of CAH. Approximately 95% mutations are a consequence of recombination between the CYP21A2 and its highly homologous pseu...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The Japanese Society for Pediatric Endocrinology
2008
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4004923/ https://ncbi.nlm.nih.gov/pubmed/24790362 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.17.49 |
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