Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
Authors:
- 8 September 2007
- journal article
- research article
- Published by Springer Nature in Diabetologia
- Vol. 50 (11) , 2313-2317
Abstract
Heterozygous mutations of glucokinase (GCK) and hepatocyte nuclear factor-1 alpha (HNF1A; also known as hepatic transcription factor 1 [TCF1]) genes are the most common cause of MODY. Genomic deletions of the HNF1B (also known as TCF2) gene have recently been shown to account for one third of mutations causing renal cysts and diabetes syndrome. We investigated the prevalence of partial and whole gene deletions in UK patients meeting clinical criteria for GCK or HNF-1α/-4α MODY and in whom no mutation had been identified by sequence analysis.Keywords
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