The clinical and genetic characterisation of young-onset diabetes

Thesis

Maturity-onset diabetes of the young (MODY), due to hepatocyte nuclear factor 1 alpha mutations (HNF1A-MODY), is the most common form of monogenic diabetes presenting in young adults. An accurate genetic diagnosis of HNF1A-MODY has therapeutic implications for the patients and their family members. However, the majority of people with HNF1A-MODY are not referred for genetic testing and remain misdiagnosed as type 1 or type 2 diabetes.

As part of measures to address this misdiagnosis...

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Authors: Mughal, S

• Publication date: 2014
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: Oxford University, UK
• Language: English
• Keywords: Young onset diabetes; Maturity onset diabetes of the young; biomarker; inflammatory response; endotoxin; MODY
• Subjects: Diabetes; Endocrinology; Genetics (medical sciences); Medical Sciences