Top

International Journal of Pediatric Endocrinology

Published in:

Open Access 01-12-2015 | Poster presentation

Phenotype, genotype of neonatal diabetes mellitus due to insulin gene mutation

Authors: Can Thi Bich Ngoc, Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Nguyen Phu Dat, Maria Craig, Sian Ellard, Nguyen Thi Hoan

Published in: International Journal of Pediatric Endocrinology | Special Issue 1/2015

Excerpt

Insulin (INS) gene mutations that cause permanent neonatal diabetes mellitus change single protein building blocks (amino acids) in the protein sequence. These mutations are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood sugar control. At least 10 mutations in the INS gene have been identified in people with permanent neonatal diabetes mellitus. …

Title: Phenotype, genotype of neonatal diabetes mellitus due to insulin gene mutation
Authors: Can Thi Bich Ngoc
Vu Chi Dung
Bui Phuong Thao
Nguyen Ngoc Khanh
Nguyen Phu Dat
Maria Craig
Sian Ellard
Nguyen Thi Hoan
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: International Journal of Pediatric Endocrinology / Issue Special Issue 1/2015
Electronic ISSN: 1687-9856
DOI: https://doi.org/10.1186/1687-9856-2015-S1-P12

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Phenotype, genotype of neonatal diabetes mellitus due to insulin gene mutation

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Special Issue 1/2015

Electrocardiography evaluation in type 1 diabetes mellitus, preliminary study

Growth status of first grader children in elementary schools in Watu Alo, Manggarai, East Nusa Tenggara

Placental hormones and the control of fetal growth

Molecular genetics, correlation between genotype and phenotype of 65 Vietnames patients with congenital hyperinsulinism

Type 2 diabetes mellitus in children: are we ‘treating’ them right?

The role of community development in improving awareness, diagnosis and management of childhood non-communicable diseases (NCDs) in Indonesia