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A new de novo mutation in the GCK gene causing MODY2.
- Source :
-
Diabetes research and clinical practice [Diabetes Res Clin Pract] 2011 Jul; Vol. 93 (1), pp. e41-3. Date of Electronic Publication: 2011 Apr 22. - Publication Year :
- 2011
-
Abstract
- Analysis of glucokinase (GCK) gene in a 15-year-old male identified a new frameshift mutation in exon 4 caused by a heterozygous guanine deletion at position 382 (c.382delG, p.E128Xfs). No mutation was detected in the parents. Polymorphic markers' study excluded false paternity indicating that c.382delG is a novel de novo mutation.<br /> (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1872-8227
- Volume :
- 93
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Diabetes research and clinical practice
- Publication Type :
- Academic Journal
- Accession number :
- 21514682
- Full Text :
- https://doi.org/10.1016/j.diabres.2011.04.006