Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency

被引：0
|
作者：
X. Zhang
Y. Gao
L. Lu
Y. Cao
W. Zhang
B. Sun
X. Wu
A. Tong
S. Chen
X. Wang
J. Mao
M. Nie
机构：
[1] National Health Commission (NHC),Department of Endocrinology, Key Laboratory of Endocrinology
[2] Peking Union Medical College Hospital),State Key Laboratory of Complex, Severe and Rare Diseases
[3] Peking Union Medical College Hospital,undefined
[4] Peking Union Medical College,undefined
[5] Chinese Academy of Medical Sciences,undefined
[6] Peking Union Medical College Hospital,undefined
[7] Peking Union Medical College,undefined
[8] Chinese Academy of Medical Sciences,undefined
来源：
Journal of Endocrinological Investigation | 2024年 / 47卷
关键词：
21-Hydroxylase deficiency; Long-read sequencing; Gene variations;
D O I：
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中图分类号：
学科分类号：
摘要：
引用
收藏
页码：833 / 841
页数：8
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