Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.

Journal article

CONTEXT: Approximately 39% of cases with permanent neonatal diabetes (PNDM) and about 11% with maturity onset diabetes of the young (MODY) have an unknown genetic aetiology. Many of the known genes causing MODY and PNDM were identified as being critical for beta cell function before their identification as a cause of monogenic diabetes. OBJECTIVE: We used nominations from the EU beta cell consortium EURODIA project partners to guide gene candidacy. SUBJECTS: Seventeen cases with permanent ne...

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Authors: Edghill, E; Minton, J; Groves, C; Flanagan, SE; Patch, A

• Journal: JOP : Journal of the pancreas
• Volume: 11
• Issue: 1
• Pages: 14-17
• Publication date: 2010-01-01
• EISSN: 1590-8577
• Language: English
• Keywords: Diabetes Mellitus; Adult; Gene Frequency; Male; Young Adult; Child; Child, Preschool; Humans; DNA Mutational Analysis; Adolescent; Middle Aged; Polymorphism, Single Nucleotide; Expert Testimony; Insulin-Secreting Cells; Sequence Analysis, DNA; Female