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Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS Short title: CYP21A2 genotyping using MALDI-TOF MS

2023-09-29

Abstract excerpt

<h4>Background: </h4> Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) based on hormonal testing is successfully implemented in many countries. However, this method cannot detect non-classic CAH and has high false positive rates. Methods This study aimed to develop a novel MALDI-TOF MS assay that can identify common variants and deletions of CYP21A2 in the Chinese population. Results Thirty-seven...

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Literature Corpus work: c1b779ac-3b35-53eb-bcee-d5e4e3e13df2
DOI: 10.21203/rs.3.rs-3346560/v1

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