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

Journal Article published 29 Aug 2018 in BMC Pediatrics volume 18 issue 1

Research funded by Swedish Cancer Society (CAN2013/389) | Medicinska Forskningsrådet (K2015-68X-11247-21-3) | Swedish County Council (ALF-2012006, ALFGBG-438361and, ALFGBG-672451)

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