Hypoglycaemia revealing heterozygous insulin receptor mutations.
作者信息
Preumont V, Feincoeur C, Lascols O, Courtillot C, Touraine P, Maiter D, Vigouroux C
机构信息
Department of endocrinology and nutrition, cliniques universitaires Saint-Luc, Bruxelles, Belgium.
AP-HP, Saint-Antoine hospital, department of molecular biology and genetics, 75012 Paris, France; Inserm UMR_S938, Saint-Antoine research centre, 75012 Paris, France; Sorbonne universités, UPMC université Paris 6, institute of cardiometabolism and nutrition (ICAN), Paris, France.
出版信息
Diabetes Metab. 2017 Feb;43(1):95-96. doi: 10.1016/j.diabet.2016.07.001. Epub 2016 Jul 26.
Abstract
摘要
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2
Autoimmune forms of hypoglycemia.自身免疫性低血糖症的类型。
Medicine (Baltimore). 2009 May;88(3):141-153. doi: 10.1097/MD.0b013e3181a5b42e.
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Hyperinsulinaemic hypoglycaemia associated with a heterozygous missense mutation of R1174W in the insulin receptor (IR) gene.与胰岛素受体（IR）基因中R1174W杂合错义突变相关的高胰岛素血症性低血糖症。
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