Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.-论文-万方医学网

作者： Gargi,Meur ^[1] ; Albane,Simon ; Nasret,Harun ; Marie,Virally ; Aurélie,Dechaume ; Amélie,Bonnefond ; Sabrina,Fetita ; Andrei I,Tarasov ; Pierre-Jean,Guillausseau ; Trine Welløv,Boesgaard ; Oluf,Pedersen ; Torben,Hansen ; Michel,Polak ; Jean-François,Gautier ; Philippe,Froguel ; Guy A,Rutter ; Martine,Vaxillaire

作者单位： Section of Cell Biology, Division of Medicine, Imperial College London, London, UK. ^[1]

主题词青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);糖尿病, 2型(Diabetes Mellitus, Type 2);内质网(Endoplasmic Reticulum);家庭卫生(Family Health);女(雌)性(Female);法国(France);绿色荧光蛋白质类(Green Fluorescent Proteins);杂合子(Heterozygote);人类(Humans);胰岛素分泌细胞(Insulin-Secreting Cells);男(雄)性(Male);诱变, 定点(Mutagenesis, Site-Directed);系谱(Pedigree);点突变(Point Mutation);胰岛素原(Proinsulin);蛋白质折叠(Protein Folding);蛋白质结构, 三级(Protein Structure, Tertiary);蛋白质转运(Protein Transport);RNA, 信使(RNA, Messenger);应激, 生理学(Stress, Physiological);青年人(Young Adult)

DOI 10.2337/db09-1091

PMID 20007936

发布时间 2024-02-13

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Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.

Diabetes

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Diabetes

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Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.

Diabetes

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Diabetes

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