Clinical utility gene card for: malignant hyperthermia

被引:12
作者
Rosenberg, Henry [1 ]
Rueffert, Henrik [2 ,3 ]
机构
[1] St Barnabas Hosp, Dept Med Educ, Livingston, NJ 07024 USA
[2] Univ Hosp, Dept Anesthesiology & Intensive Care Med, Leipzig, Germany
[3] HELIOS Clin, Leipziger Land, Borna, Germany
关键词
CENTRAL CORE DISEASE; VITRO CONTRACTURE TEST; RYR1; MUTATIONS; CODING REGION; SUSCEPTIBILITY; RECEPTOR; MUSCLE; IDENTIFICATION; PHENOTYPES; DIAGNOSIS;
D O I
10.1038/ejhg.2010.248
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:732 / 732
页数:3
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