Browsing by Author "c5d15136-2acb-4c3a-acab-d22d05911882"

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    • De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient ... 
      De Franco, Elisa; Caswell, Richard; Johnson, Matthew B.; Wakeling, Matthew N.; Zung, Amnon; Dũng, Vũ Chí; Bích Ngọc, Cấn Thị; Goonetilleke, Rajiv; Vivanco Jury, Maritza; El-Khateeb, Mohammed; Ellard, Sian; Flanagan, Sarah E.; Ron, David; Hattersley, Andrew T. (American Diabetes Association, 2020)
      Permanent neonatal diabetes mellitus (PNDM) is caused by reduced beta-cell number or impaired beta-cell function. Understanding of the genetic basis of this disorder highlights fundamental beta-cell mechanisms. We performed ...