Results from two year pilot study for identifying inherited myopathies by combining enzymatical testing with "clinical symptomatic-based next-generation sequencing"

被引：0
|
作者：
Streubel, Berthold [1 ]
Mechtler, Thomas P. [2 ]
Sansen, Stefaan [3 ]
Kasper, David C. [2 ]
机构：
[1] Med Univ Vienna, Dept Pathol, Vienna, Austria
[2] ARCHIMEDlife, Vienna, Austria
[3] Sanofi, Rare Dis, Brussles, Belgium
来源：
MOLECULAR GENETICS AND METABOLISM | 2023年 / 138卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2022.107329
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
346
引用
收藏
页码：125 / 125
页数：1
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