Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism
Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism
复制标题
由亲代性染色体嵌合引起的 ANK1 基因中新的遗传性球形红细胞增多症相关剪接位点突变
DOI：
10.3324/haematol.2017.186551
复制
发表时间：
2018-04-30
期刊：
影响因子：
10.1
通讯作者：
Hu, Qun
中科院分区：
文献类型：
--
作者：
Wang, Xiong;Shen, Na;Hu, Qun
遗传性球形红细胞增多症（Hereditary spherocytosis，HS）是一种以贫血、黄疸、胆石症和脾肿大为特征的遗传性溶血性贫血，在我国的患病率为1/10，000。[1][1] HS的诊断主要基于阳性家族史、临床特征和
Hereditary spherocytosis (HS) is a heterogeneous condition of inherited hemolytic anemia characterized by anemia, jaundice, cholelithiasis and splenomegaly with a prevalence of 1 in 10,000 in China.[1][1] Diagnosis of HS is mainly based on a positive familial history, clinical features and