Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing-Reference-Cited by-同舟云学术

Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing

Published:2018-12-05 Issue:4 Volume:10 Page:947-950
ISSN:2040-1116
Container-title:Journal of Diabetes Investigation
language:en
Short-container-title:J Diabetes Investig

Author:

Matsuno Shohei¹,Furuta Hiroto¹^ORCID,Kosaka Kitaro²,Doi Asako¹,Yorifuji Tohru³,Fukuda Takuya⁴,Senmaru Takafumi⁴,Uraki Shinsuke¹,Matsutani Norihiko¹,Furuta Machi⁵,Mishima Hiroyuki⁶^ORCID,Iwakura Hiroshi¹,Nishi Masahiro⁷,Yoshiura Kohichiro⁶,Fukui Michiaki⁴,Akamizu Takashi¹

Affiliation:

1. The First Department of Medicine Wakayama Medical University Wakayama Japan

2. Department of Pediatrics Kyoto Prefectural University of Medicine Kyoto Japan

3. Division of Pediatric Endocrinology and Metabolism, Children's Medical Center Osaka City General Hospital Osaka Japan

4. Department of Endocrinology and Metabolism Kyoto Prefectural University of Medicine Kyoto Japan

5. Clinical Laboratory Medicine Wakayama Medical University Wakayama Japan

6. Department of Human Genetics Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan

7. Department of Clinical Nutrition and Metabolism Wakayama Medical University Wakayama Japan

Funder

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdi.12974

Reference12 articles.

1. A structurally abnormal insulin causing human diabetes

2. Identification of a point mutation in the human insulin gene giving rise to a structurally abnormal insulin (insulin Chicago)

3. Diabetes due to secretion of a structurally abnormal insulin (insulin Wakayama). Clinical and functional characteristics of [LeuA3] insulin.

4. Insulin gene mutations as a cause of permanent neonatal diabetes

5. Seven mutations in the human insulin gene linked to permanent neonatal/infancy‐onset diabetes mellitus;Colombo C;J Clin Invest,2008

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