Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

por Lundin, Karin E., Wang, Qing, Hamasy, Abdulrahman, Marits, Per, Uzunel, Mehmet, Wirta, Valtteri, Wikström, Ann-Charlotte, Fasth, Anders, Ekwall, Olov, Smith, C.I. Edvard
Publicado 2018

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene

por Lundin, Karin E., Hamasy, Abdulrahman, Backe, Paul Hoff, Moens, Lotte N., Falk-Sörqvist, Elin, Elgstøen, Katja B., Mørkrid, Lars, Bjørås, Magnar, Granert, Carl, Norlin, Anna-Carin, Nilsson, Mats, Christensson, Birger, Stenmark, Stephan, Smith, C.I. Edvard
Publicado 2015