2019•PubMedRequires access
[Diagnostic value of multiplex ligation dependent probe amplification combined with Sanger sequencing in 21-hydroxylase deficiency].
Ya Gao, B Q Yu, Li-dan Lu, Anli Tong, S Chen, Jing Mao, X Wang, Xingwen Wu, Min Nie
Open publisher page 1 citations
Abstract
gene sequencing were used alone to diagnose the cause of 21-OHD, gene mutations in all patients could not be detected. The combination of the two methods can complement each other and fully clarify the underlying causes of 21-OHD.