A Novel De Novo <i>NFKBIA</i> Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.

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作者： Chai Teng,Chear ^[1] ; Bader Abdul Kader,El Farran ^[2] ; Marina,Sham ^[3] ; Kavetha,Ramalingam ^[4] ; Lokman Mohd,Noh ^[3] ; Intan Hakimah,Ismail ^[5] ; Mei Yee,Chiow ^[2] ; Mohd Farid,Baharin ^[1] ; Adiratna Mat,Ripen ^[1] ; Saharuddin Bin,Mohamad ^[2]

作者单位： Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Setia Alam 40170, Malaysia. ^[1] Institute of Biological Sciences, Faculty of Science, Universiti Malaya, Kuala Lumpur 50603, Malaysia. ^[2] Pediatric Department, Kuala Lumpur Hospital, Ministry of Health Malaysia, Kuala Lumpur 50586, Malaysia. ^[3] Pediatric Department, Taiping Hospital, Ministry of Health Malaysia, Taiping 34000, Malaysia. ^[4] Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia. ^[5] Centre of Research in Systems Biology, Structural Bioinformatics and Human Digital Imaging (CRYSTAL), Universiti Malaya, Kuala Lumpur 50603, Malaysia. ^[6]

关键词 IκBα NF-κB NFKBIA hyper IgM-like phenotype post-translational modification