Article

Novel and Rapid Molecular Diagnosis Methods in Comprehensive Genetic Analysis of 21-hydroxylase Deficiency

2024-04-02

Abstract excerpt

<title>Abstract</title> <p>Background Molecular analysis of <italic>CYP21A2</italic> gene is of great importance to understanding the etiology of 21-hydroxylase deficiency. The aim of the study was to introduce a novel approach named CNVplex, together with SNaPshot assay and direct sequencing to identify <italic>CYP21A2</italic> mutations efficiently and comprehensively. Targeted <italic>CYP21A2</italic> mutatio...

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Literature Corpus work: 8d59e6c9-755a-59d0-b5d1-570e16690b59
DOI: 10.21203/rs.3.rs-3912380/v1

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