Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis

OBJECTIVE: To demonstrate the importance of using a combined genetic and functional approach to correctly interpret a genetic test for monogenic diabetes. RESEARCH DESIGN AND METHODS: We identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GC...

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Detalles Bibliográficos
Autores principales: Beer, Nicola L., Osbak, Kara K., van de Bunt, Martijn, Tribble, Nicholas D., Steele, Anna M., Wensley, Kirsty J., Edghill, Emma L., Colcough, Kevin, Barrett, Amy, Valentínová, Lucia, Rundle, Jana K., Raimondo, Anne, Grimsby, Joseph, Ellard, Sian, Gloyn, Anna L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2012
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3379612/
https://www.ncbi.nlm.nih.gov/pubmed/22611063
http://dx.doi.org/10.2337/dc11-2420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3379612/
https://www.ncbi.nlm.nih.gov/pubmed/22611063
http://dx.doi.org/10.2337/dc11-2420

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