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浏览/检索结果: 共7条，第1-7条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择发表日期升序发表日期降序提交时间升序提交时间降序题名升序题名降序作者升序作者降序 A de novo ANK1 mutation associated to hereditary spherocytosis: a case report 期刊论文 BMC PEDIATRICS, 2019, 卷号: 19 作者:  Huang, Ti-Long;  Sang, Bao-Hua;  Lei, Qing-Ling;  Song, Chun-Yan;  Lin, Yun-Bi 收藏  |  浏览/下载：26/0  |  提交时间：2019/12/04 Hereditary spherocytosis  ANK1  frameshift mutation   Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis 期刊论文 JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2019, 卷号: 23, 期号: 6 作者:  Hao, Lili;  Li, Shanshan;  Ma, Duan;  Chen, Shiyu;  Zhang, Bowen 收藏  |  浏览/下载：16/0  |  提交时间：2019/12/05 ANK1  hereditary spherocytosis  in vitro experiment  mutation  NGS   Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis 期刊论文 2018, 卷号: 61, 期号: 8, 页码: 947-953 作者:  Wang, Rongrong;  Yang, Shuanghao;  Xu, Ming;  Huang, Jia;  Liu, Hongyan 收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03 hereditary spherocytosis  mutation  ANK1  SPTB  SLC4A1  whole-exome sequencing   Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis 期刊论文 SCIENCE CHINA-LIFE SCIENCES, 2018, 卷号: 61, 期号: 8, 页码: 947-953 作者:  Wang Rongrong;  Yang Shuanghao;  Xu Ming;  Huang Jia;  Liu Hongyan 收藏  |  浏览/下载：63/0  |  提交时间：2021/02/02 RED-CELL MEMBRANE  HEMATOLOGICALLY IMPORTANT MUTATIONS  RENAL TUBULAR-ACIDOSIS  HEMOLYTIC-ANEMIA  BETA-SPECTRIN  CYTOPLASMIC DOMAIN  BAND-3 DEFICIENCY  DISORDERS  ANKYRIN  VARIANTS  hereditary spherocytosis  mutation  ANK1  SPTB  SLC4A1  whole-exome sequencing   Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis 期刊论文 SCIENCE CHINA-LIFE SCIENCES, 2018, 卷号: 61, 期号: 8, 页码: 947-953 作者:  Wang Rongrong;  Yang Shuanghao;  Xu Ming;  Huang Jia;  Liu Hongyan 收藏  |  浏览/下载：6/0  |  提交时间：2021/02/02 RED-CELL MEMBRANE  HEMATOLOGICALLY IMPORTANT MUTATIONS  RENAL TUBULAR-ACIDOSIS  HEMOLYTIC-ANEMIA  BETA-SPECTRIN  CYTOPLASMIC DOMAIN  BAND-3 DEFICIENCY  DISORDERS  ANKYRIN  VARIANTS  hereditary spherocytosis  mutation  ANK1  SPTB  SLC4A1  whole-exome sequencing   Protein 4.2 Komatsu (D175Y) associated with the lack of interaction with ankyrin in human red blood cells 期刊论文 BLOOD CELLS MOLECULES AND DISEASES, 2007, 卷号: 38, 期号: 3 作者:  Su, Yang;  Ding, Yu;  Jiang, Ming;  Hu, Xiaojian;  Zhang, Zhihong 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/27 red blood cell  hereditary spherocytosis  protein 4.2 ankyrin  protein-protein interactions   遗传球形红细胞增多症红细胞膜力学特性研究 Studies on the Mechanical Properties of Erythrocyte membrane for Hereditary Spherocytosis 期刊论文 1999, 卷号: 22, 页码: 74-77 作者:  宋关斌[1];  吴泽志[1] 收藏  |  浏览/下载：2/0  |  提交时间：2019/11/29