| Literature DB >> 21514682 |
Alessia Cappelli1, Serena Silvestri, Stefano Tumini, Silvia Carinci, Paola Cipriano, Luciano Massi, Paolo Staffolani, Luigi Pianese.
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.Entities:
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Year: 2011 PMID： 21514682 DOI： 10.1016/j.diabres.2011.04.006
Source DB: PubMed Journal: Diabetes Res Clin Pract ISSN： 0168-8227 Impact factor: 5.602