Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

Aim. The objective of this study was to describe the clinical characteristics of two siblings and their father carrying a C95Y mutation in the insulin (INS) gene. Methods/Results. A Danish patient, his sister, and his father were identified to carry the C95Y mutation in the preproinsulin molecule ca...

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Bibliografiske detaljer
Main Authors: Fredheim, Siri, Svensson, Jannet, Pørksen, Sven, Hansen, Lars, Hansen, Torben, Pedersen, Oluf Borbye, Mortensen, Henrik Bindesbøl, Barbetti, Fabrizio, Nielsen, Lotte Brøndum
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2011
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3447221/
https://ncbi.nlm.nih.gov/pubmed/23074673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2011/258978
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