Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8314203 | Clinica Chimica Acta | 2012 | 4 Pages |
Abstract
⺠We present a fast, genetic test applicable to second-tier CAH newborn screening. ⺠We developed and validated a reverse-hybridization test strip-based assay. ⺠This CAH StripAssay detects the 11 most prevalent CYP21A2 mutations. ⺠Also ~ 50% of large gene deletions/conversions can be identified. ⺠Only small amounts of DNA extracted from dried blood spots are required.
Keywords
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Authors
Stefan Németh, Stefan Riedl, Gernot Kriegshäuser, Sabina Baumgartner-Parzer, Paola Concolino, Vassos Neocleous, Leonidas A. Phylactou, Maryla Borucka-Mankiewicz, Hüseyin Onay, Ajlan Tukun, Christian Oberkanins,