机译:由纯合子FGA1238 bp缺失,复合杂合子FGA1238 bp缺失和新型FGA c.54 + 3A> C取代引起的纤维蛋白原突变的分子分析
Department of Health and Medical Sciences, Graduate School of Medicine, Shinshu University, Matsumoto, Japan;
Department of Health and Medical Sciences, Graduate School of Medicine, Shinshu University, Matsumoto, Japan;
Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan;
Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan;
Department of Pediatrics, Kurashiki Central Hospital, Kurashiki, Japan;
Department of Pediatrics, Kurashiki Central Hospital, Kurashiki, Japan;
Department of Pediatrics, Mie Prefectural Medical Center Hospital, Yokkaichi, Japan;
Department of Health and Medical Sciences, Graduate School of Medicine, Shinshu University, Matsumoto, Japan;
Afibrinogenemia; Aα-chain; Splicing abnormality; Deletion; Compound heterozygote;
机译:由纯合子FGA1238 bp缺失,复合杂合子FGA1238 bp缺失和新型FGA c.54 + 3A> C取代引起的纤维蛋白原突变的分子分析
机译:用暧昧外部生殖器的狗睾酮途径基因分析(78,XY; SRY-阳性)显示出2-BP缺失的纯合动物,导致HSD17B3中的过早止血码头
机译:纯合缺失可能是附近杂合突变的标志:HCT116结肠癌细胞系FRA16D处的复杂缺失可去除WWOX的外显子。
机译:西门塔尔牛的蛛网膜症候群是由钼辅助因子合成第1步基因(MOCS1)的纯合2 bp缺失引起的
机译:由纯合FGA1238BP缺失引起的二生种突变的分子分析,以及化合物杂合FGA1238BP缺失和新型FGA C.54 + 3A> C的替代