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Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus
- Cho, Yun Kyung;
- Cho, Eun-Hee;
- Choi, Hoon Sung;
- Kim, Sang-Wook
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4초록
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
- 발행일
- 2018-09
- 유형
- Article
- 권
- 143
- 페이지
- 263 ~ 266