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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;  Gu Weiyue;  Zhang Xue
收藏  |  浏览/下载：142/0  |  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;  Gu Weiyue;  Zhang Xue
收藏  |  浏览/下载：137/0  |  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