Front Neurosci. 2023 Nov 6;17:1261679. doi: 10.3389/fnins.2023.1261679. eCollection 2023.
3
Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human protein.
由人类蛋白质特有的29个氨基酸插入区域中的新型经典剪接变体引起的急性间歇性卟啉症的遗传分析。
Front Mol Biosci. 2023 Aug 10;10:1230798. doi: 10.3389/fmolb.2023.1230798. eCollection 2023.