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Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency

Abstract Background Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct sequencing, to identify CYP21A2 mutations...

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Wedi'i Gadw mewn:
Prif Awduron: Yanjie Xia, Feng Yu, Ying Bai, Lili Jiang, Panlai Shi, Zhengwen Jiang, Xiangdong Kong
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2024-10-01
Cyfres:Orphanet Journal of Rare Diseases
Pynciau:
Congenital adrenal hyperplasia
21-OHD
SNaPshot
CNVplex
Genetic analysis
Mynediad Ar-lein:https://doi.org/10.1186/s13023-024-03414-4
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