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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...
Autores principales: | Fredheim, Siri, Svensson, Jannet, Pørksen, Sven, Hansen, Lars, Hansen, Torben, Pedersen, Oluf Borbye, Mortensen, Henrik Bindesbøl, Barbetti, Fabrizio, Nielsen, Lotte Brøndum |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447221/ https://www.ncbi.nlm.nih.gov/pubmed/23074673 http://dx.doi.org/10.1155/2011/258978 |
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