The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes

The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes

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 som...

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Bibliografische gegevens
Hoofdauteurs:	Laver, T, Colclough, K, Shepherd, M, Patel, K, Houghton, J, Dusatkova, P, Pruhova, S, Morris, A, Palmer, C, McCarthy, M, Ellard, S, Hattersley, A, Weedon, M
Formaat:	Journal article
Taal:	English
Gepubliceerd in:	American Diabetes Association 2016

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