A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2-Reference-Cited by-同舟云学术

A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2

Published:2023 Issue:6 Volume:70 Page:629-634
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Tanaka Satoshi¹,Akagawa Hiroyuki¹,Azuma Kenkou¹,Watanabe Kaoru²,Higuchi Sayaka¹,Iwasaki Naoko³

Affiliation:

1. Institute for Comprehensive Medical Sciences, Tokyo Women’s Medical University, Tokyo 162-8666, Japan

2. Department of Endocrinology and Metabolism, Graduate School of Medicine, Yokohama City University, Yokohama 236-0027, Japan

3. Diabetes and Metabolism, School of Medicine, Tokyo Women’s Medical University, Tokyo 162-8666, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/70/6/70_EJ22-0541/_pdf

Reference13 articles.

1. 1 Hattersley AT (1998) Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabet Med 15: 15–24.

2. 2 Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, et al. (1992) Linkage of type 2 diabetes to the glucokinase gene. Lancet 339: 1307–1310.

3. 3 (2020) Announcement from The Research Committee on the Etiology, Diagnosis and Treatment of Monogenic Diabetes. Research Committee on the Etiology, Diagnosis and Treatment of Monogenic Diabetes, The Japan Diabetes Society. http://www.jds.or.jp/modules/study/index.php?content_id=33 accessed on March 3, 2023 (In Japanese).

4. 4 Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, et al. (2010) Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53: 2504–2508.

5. 5 Hattersley AT, Patel KA (2017) Precision diabetes: learning from monogenic diabetes. Diabetologia 60: 769–777.

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