日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

Kir6.2门控环上的邻近突变会导致新生儿糖尿病和高胰岛素血症。

Shimomura, Kenju; Flanagan, Sarah E; Zadek, Brittany; Lethby, Mark; Zubcevic, Lejla; Girard, Christophe A J; Petz, Oliver; Mannikko, Roope; Kapoor, Ritika R; Hussain, Khalid; Skae, Mars; Clayton, Peter; Hattersley, Andrew; Ellard, Sian; Ashcroft, Frances M

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes

一例患有短暂性新生儿糖尿病的患者,其KCNJ11基因新发现的错义变异R365H与父系遗传的6q24重复序列同时存在。

Staník, Juraj; Lethby, Mark; Flanagan, Sarah E; Gasperíková, Daniela; Milosovicová, Beata; Lever, Margaret; Bullman, Hilary; Zubcevic, Lejla; Hattersley, Andrew T; Ellard, Sian; Ashcroft, Frances M; Klimes, Iwar