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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Diabetes
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items