机译:导致致死性围产期低磷酸血症的新型杂合组织非特异性碱性磷酸酶(TNAP)基因突变
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, 100, Taiwan;
Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan;
Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan;
Department of Medical Imaging, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan;
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, 100, Taiwan;
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, 100, Taiwan;
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicin;
Hypophosphatasia; Tissue-nonspecific isoenzyme of alkaline phosphatase; Mutation; Structure modeling;
机译:新型致死性组织非特异性碱性磷酸酶(TNAP)基因突变引起致死的围产期低磷酸血症
机译:组织非特异性碱性磷酸酶基因(TNAP)突变导致围产期低磷酸血症的非致命病例
机译:成人非磷酸化伴组织非特异性碱性磷酸酶基因中的复合杂合子p.Phe327Leu missense和c.1559delT移码突变
机译:次磷酸盐抑制碱性磷酸酶的生理作用
机译:人肝/骨/肾碱性磷酸酶基因的结构及低磷的遗传基础
机译:在组织非特异性碱性磷酸酶基因中具有复合杂合子p.Phe327Leu missense和c.1559delT移码突变的成人低磷血症:一例报告
机译:吡哆醇反应性癫痫发作是由组织非特异性碱性磷酸酶基因的两个新的错义突变(c.677T u3eC,p.m226T; c.1112C u3eT,p.T371I)引起的婴儿低磷酸盐血症的第一个症状
机译:Francisella DnaK抑制组织非特异性碱性磷酸酶。