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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク PGM3 deficiency ： ウィキペディア英語版 PGM3 deficiency ==Introduction== PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished phosphoacetylglucosamine mutase (PGM3) function. PGM3 is an enzyme which in humans is encoded by gene ''PGM3''. This disorder manifests as severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination. In 2014, Investigators Atfa Sassi at the Pasteur Institute of Tunis, Sandra Lazaroski at the University Medical Center Freiburg, and Gang Wu at the Imperial College London, identified PGM3 mutations in nine patients from four consanguineous families. In the same year, a researchers from the laboratories of (Joshua Milner ) and (Helen Su ) at the National Institute of Allergy and Infectious Disease at the U.S. National Institutes of Health described PGM3 deficiency in eight additional patients from two families. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「PGM3 deficiency」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.