Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

por Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon
Publicado 2017