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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Diabetes
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2016
Gaiak:
Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak