Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
钙蛋白酶调节亚基 CAPNS1 中的双等位基因变异导致肺动脉高压
期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2023.100811
Alex V Postma, Christina K Rapp, Katrin Knoflach, Alexander E Volk, Johannes R Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M A Jansen, Harm J Bogaard, Aho Ilgun, Mariëlle Alders, Karin Y van Spaendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christi