...
机译:土耳其尼曼甘农磷酸二磷酸酯酶1基因(SMPD1)分析术治疗病患者:突变剖面与新突变的描述
Ege University Faculty of Medicine Department of Medical Genetics Izmir Turkey;
Ege University Faculty of Medicine Department of Medical Genetics Izmir Turkey;
Ege University Faculty of Medicine Department of Medical Genetics Izmir Turkey;
Ege University Faculty of Medicine Department of Pediatric Metabolism Izmir Turkey;
Ege University Faculty of Medicine Department of Pediatric Metabolism Izmir Turkey;
Ege University Faculty of Medicine Department of Medical Genetics Izmir Turkey;
Ege University Faculty of Medicine Department of Medical Genetics Izmir Turkey;
Niemann-Pick disease; Novel mutation; SMPD1 gene; Turkish population;
机译:土耳其尼曼-皮克病患者鞘磷脂磷酸二酯酶1基因(SMPD1)的分析:突变概况和新突变的描述。
机译:巴基斯坦Niemann-pick病患者的SMPD1基因的突变谱
机译:亚洲印度患者中SMPD1基因的突变谱谱含有酸鞘磷脂酶缺陷型疾病(Vol 170A,PG 2719,2016)
机译:突变视图:人类疾病基因突变和多态性的综合知识基础 - 疾病相关知识的自动提取 -
机译:具有微卫星不稳定性的大肠癌患者的突变谱; BRCA2和EGFR体细胞突变的频率高
机译:甲型和乙型Niemann-Pick病(NPD)患者的鞘磷脂磷酸二酯酶1(SMPD1)基因中的四个新的p.N385Kp.V36Ac.1033-1034insT和c1417-1418delCT突变
机译:四个新p.N385K,p.V36a,c.1033-1034insT和c.1417-1418delCT突变在鞘磷脂磷酸二酯酶1(smpD1)基因在患者a型和B型尼曼 - 皮克病(NpD)