Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

por Hopkins, Jasmin J, Childs, Alexandra J, Houghton, Jayne A L, Hewat, Thomas I, Atapattu, Navoda, Johnson, Matthew B, Patel, Kashyap A, Laver, Thomas W, Flanagan, Sarah E
Publicado 2022

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

por Wakeling, Matthew N., Owens, Nick D. L., Hopkinson, Jessica R., Johnson, Matthew B., Houghton, Jayne A.L., Dastamani, Antonia, Flaxman, Christine S., Wyatt, Rebecca C., Hewat, Thomas I., Hopkins, Jasmin J., Laver, Thomas W., van Heugten, Rachel, Weedon, Michael N., De Franco, Elisa, Patel, Kashyap A., Ellard, Sian, Morgan, Noel G., Cheesman, Edmund, Banerjee, Indraneel, Hattersley, Andrew T., Dunne, Mark J., Richardson, Sarah J., Flanagan, Sarah E.
Publicado 2022