Article
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.
Diabetes - 1 Oct 2016
Laver Thomas W, Colclough Kevin, Shepherd Maggie, Patel Kashyap, Houghton Jayne A L, Dusatkova Petra, Pruhova Stepanka, Morris Andrew D, Palmer Colin N, McCarthy Mark I, Ellard Sian, Hattersley Andrew T, Weedon Michael N
Abstract excerpt
HNF4A mutations cause increased birth weight, transient neonatal hypoglycemia, and maturity onset diabetes of the young (MODY). The most frequently reported HNF4A mutation is p.R114W (previously p.R127W), but functional studies have shown inconsistent results; there is a lack of cosegregation in some pedigrees and an unexpectedly high frequency in public variant databases. We confirm that p.R114W is a pathogenic...
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