机译:先天性贫血性贫血II型突变谱:SEC23B基因† sup> ‡ sup>中的19个新变异的鉴定
CEINGE Biotecnologie Avanzate, Napoli, Italy|Department of Biochemistry and Medical Biotechnologies, University Federico II of Naples, Italy;
|CEINGE Biotecnologie Avanzate, Napoli, Italy|Department of Biochemistry and Medical Biotechnologies, University Federico II of Naples, Italy;
|CEINGE Biotecnologie Avanzate, Napoli, Italy;
CEINGE Biotecnologie Avanzate, Napoli, Italy;
Department of Pediatrics, Second University of Naples, Italy;
Hematology Unit, Department of Pediatrics, University of Torino, Torino, Italy;
Centro della Microcitemia e Anemie Congenite, Ospedale Galliera, Genova, Italy;
Department of Pediatric Hematology-Oncology, Akdeniz University School of Medicine, Antalya, Turkey;
INSERM U 779, Faculté de Médecine Paris-Sud, Univ Paris-Sud, Le Kremlin-Bicêtre, France;
CEINGE Biotecnologie Avanzate, Napoli, Italy|Department of Biochemistry and Medical Biotechnologies, University Federico II of Naples, Italy;
机译:II型先天性贫血性贫血的突变谱:确定SEC23B基因中的19个新变异。
机译:通过在非免长遗传性溶血性贫血的未确诊案例中使用下一代测序面板,鉴定与先天性脱疑人类贫血患者的SEC23B基因的新突变。
机译:II型先天性非人类造血性贫血(CDAII)是由SEC23B基因突变引起的。
机译:鉴定DPAGT1作为突变引起先天性染发素综合征的新基因
机译:甲基磺酸乙酯(EMS)的响应特异性:基因位置对果蝇(Drossophella melanoster)中观察到的互变谱的影响以及在蜜蜂生精过程中差异生代的烷基化敏感性(API)。
机译:先天性贫血性贫血II型突变谱:SEC23B基因19个新变异的鉴定
机译:先天性贫血性贫血II型突变谱:SEC23B基因19个新变异的鉴定