Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer's Disease or Frontotemporal Dementia
汇总的全外显子组测序数据中罕见的致病变异提示高氨血症可能是未被归类为阿尔茨海默病或额颞叶痴呆的痴呆症的可能病因。
期刊:Genes
影响因子:2.8
doi:10.3390/genes15060753
Karachanak-Yankova, Sena; Serbezov, Dimitar; Antov, Georgi; Stancheva, Mikaela; Mihaylova, Marta; Hadjidekova, Savina; Toncheva, Draga; Pashov, Anastas; Belejanska, Diyana; Zhelev, Yavor; Petrova, Mariya; Mehrabian, Shima; Traykov, Latchezar
