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

HNF4A mutations cause increased birth weight, transient neonatal hypoglycaemia 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 lack of co-segregation in some...

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Pubblicato in:Diabetes
Autori principali: Laver, Thomas W, Colclough, Kevin, Shepherd, Maggie, Patel, Kashyap, Houghton, Jayne AL, Dusatkova, Petra, Pruhova, Stepanka, Morris, Andrew D, Palmer, Colin N, McCarthy, Mark I, Ellard, Sian, Hattersley, Andrew T, Weedon, Michael N
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5035684/
https://ncbi.nlm.nih.gov/pubmed/27486234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db16-0628
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