A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

We report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His father, grandfather and great grandfather suffered type 2 DM. Seve...

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Bibliographic Details
Main Authors: N. H. Birkebæk, J. S. Sørensen, J. Vikre-Jørgensen, P. K. A. Jensen, O. Pedersen, T. Hansen
Format: Article
Language:English
Published: Wiley 2011-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2011/768610
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