The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics.
第一作者:
Paul,Dickinson
第一单位:
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
作者:
医学主题词
动物(Animals);囊性纤维化(Cystic Fibrosis);囊性纤维化跨膜传导调节因子(Cystic Fibrosis Transmembrane Conductance Regulator);疾病模型, 动物(Disease Models, Animal);电生理学(Electrophysiology);女(雌)性(Female);纯合子(Homozygote);男(雄)性(Male);小鼠(Mice);突变(Mutation);表型(Phenotype);蛋白质加工, 转译后(Protein Processing, Post-Translational)
DOI
10.1093/hmg/11.3.243
PMID
11823443
发布时间
2019-05-13
- 浏览15
Human molecular genetics
243-51页
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