Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus

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초록

A novel mutation in intron 9-exon 10 boundary of the GCK gene was detected in a male patient with clinical features of GCK-MODY and situs inversus. This case highlights the value of sequencing the GCK gene in individuals with GCK-MODY phenotype and no family history of monogenic diabetes. (C) 2018 Elsevier B.V. All rights reserved.

키워드

Glucokinase; Maturity-onset diabetes of the young; Situs inversus; CLINICAL CHARACTERISTICS; YOUNG
제목
Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus
저자
Cho, Yun Kyung; Cho, Eun-Hee; Choi, Hoon Sung; Kim, Sang-Wook
DOI
10.1016/j.diabres.2018.07.036
발행일
2018-09
유형
Article
저널명
Diabetes Research and Clinical Practice
권
143
페이지
263 ~ 266