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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Hlavní autoři: Ono, Makoto, Kashimada, Kenichi, Miyai, Kentaro, Onishi, Toshikazu, Takagi, Masatoshi, Honma, Seijiro, Mizutani, Shuki
Médium: Artigo
Jazyk:Inglês
Vydáno: The Japanese Society for Pediatric Endocrinology 2008
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On-line přístup: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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