An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity
一种X连锁离子通道病,由CLIC2基因突变增强兰尼碱受体通道活性引起,导致心脏肥大。
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/dds292
Kyoko Takano ,Dan Liu, Patrick Tarpey, Esther Gallant, Alex Lam, Shawn Witham, Emil Alexov, Alka Chaubey, Roger E Stevenson, Charles E Schwartz, Philip G Board, Angela F Dulhunty