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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Detalhes bibliográficos
Publicado no:Diabetes
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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