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

被引：0

作者：

S. Ahmet Ucakturk

Figen Gunindi

Serdar Ceylaner

Eda Mengen

Selin Elmaogulları

Bilgin Yuksel

机构：

[1] Ankara Children’s Hematology and Oncology Training Hospital,Department of Pediatric Endocrinology

[2] Medical Park Hospital,Department of Pediatric Endocrinology

[3] Intergen Laboratory,Human Genetics

[4] Çukurova University,Department of Pediatric Endocrinology

来源：

International Journal of Diabetes in Developing Countries | 2017年 / 37卷

关键词：

GCK-MODY; Obese patient; Novel mutation;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：323 / 326

页数：3

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