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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Bibliographic Details
Main Authors: Beer, N, Osbak, K, van de Bunt, M, Tribble, N, Steele, A, Wensley, K, Edghill, E, Colcough, K, Barrett, A, Valentínová, L, Rundle, J, Raimondo, A, Grimsby, J, Ellard, S, Gloyn, A
Format: Journal article
Language:English
Published: 2012