Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts
内质网应激诱导的显性 WFS1 突变是新生儿/婴儿期发病型糖尿病、先天性神经性耳聋和先天性白内障等遗传综合征的根本原因
期刊:Diabetes
影响因子:6.2
doi:10.2337/db16-1296
Elisa De Franco, Sarah E Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T Hattersley
