A novel genetic mutation in a Turkish family with GCK-MODY

S. Ahmet Ucakturk; Figen Gunindi; Serdar CeylanerEda MengenSelin Elmaogullar?Bilgin Yuksel

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A novel genetic mutation in a Turkish family with GCK-MODY

机译：A novel genetic mutation in a Turkish family with GCK-MODY

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Abstract Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is an autosomal dominantly inherited disease caused by heterozygous inactivating mutations in the glucokinase gene. It usually presents with mild fasting hyperglycemia. Here, we present an obese patient and her family with GCK-MODY caused by a novel heterozygous p.E51 * (c.151.G>T) mutation in the GCK gene.

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《International journal of diabetes in developing countries.》 |2017年第3期|323-326|共4页
作者
S. Ahmet Ucakturk; Figen Gunindi; Serdar CeylanerEda MengenSelin Elmaogullar?Bilgin Yuksel;
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作者单位

Department of Pediatric Endocrinology, Ankara Children’s Hematology and Oncology Training Hospital;

Department of Pediatric Endocrinology, Medical Park Hospital;

Human Genetics, Intergen LaboratoryDepartment of Pediatric Endocrinology, ?ukurova University;

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正文语种英语
中图分类内分泌腺疾病及代谢病;
关键词
GCK-MODY; Obese patient; Novel mutation;

A novel genetic mutation in a Turkish family with GCK-MODY

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