Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of this family presented with diabetes with age of diagnosis ranging from 18 to 51 years and a pattern suggesting autosomal dominant inheritanc...

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Detalles Bibliográficos
Autores principales: Bonnycastle, Lori L., Chines, Peter S., Hara, Takashi, Huyghe, Jeroen R., Swift, Amy J., Heikinheimo, Pirkko, Mahadevan, Jana, Peltonen, Sirkku, Huopio, Hanna, Nuutila, Pirjo, Narisu, Narisu, Goldfeder, Rachel L., Stitzel, Michael L., Lu, Simin, Boehnke, Michael, Urano, Fumihiko, Collins, Francis S., Laakso, Markku
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2013
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806620/
https://www.ncbi.nlm.nih.gov/pubmed/23903355
http://dx.doi.org/10.2337/db13-0571

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