Article
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
Diabetes - 1 Mar 2020
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
Abstract excerpt
Permanent neonatal diabetes mellitus (PNDM) is caused by reduced β-cell number or impaired β-cell function. Understanding of the genetic basis of this disorder highlights fundamental β-cell mechanisms. We performed trio genome sequencing for 44 patients with PNDM and their unaffected parents to identify causative de novo variants. Replication studies were performed in 188 patients diagnosed with diabetes before 2...
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