Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	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
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	2012

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