Targeted Long-Read Sequencing for Comprehensive Detection of CYP21A2 Mutations in Patients with 21-Hydroxylase Deficiency.

X. Zhang, Y. Gao,L. Lu,Y. Cao,W. Zhang,B. Sun, X. Wu,A. Tong,S. Chen, X. Wang, J. Mao,M. Nie

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION（2024）

Cited 3|Views18

Key words

21-Hydroxylase deficiency,CYP21A2,Long-read sequencing,Gene variations

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