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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Detalles Bibliográficos
Autores principales: Birkebæk, N. H., Sørensen, J. S., Vikre-Jørgensen, J., Jensen, P. K. A., Pedersen, O., Hansen, T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447227/
https://www.ncbi.nlm.nih.gov/pubmed/23074679
http://dx.doi.org/10.1155/2011/768610

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