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Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations
Authors:Duangrurdee Wattanasirichaigoon  Suwat Benjaponpitak  Chonnamet Techasaensiri  Wasu Kamchaisatian  Pakit Vichyanond  Sucheela Janwityanujit  Lulin Choubtum  Sayomporn Sirinavin
Institution:(1) Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Rama VI Road, Bangkok, 10400, Thailand;(2) Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand;(3) Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand;(4) Research Center, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Abstract:
Keywords:BTK gene  Ecthyma gangrenosum  Splice mutation  XLA
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