遗传性球形红细胞增多症
生物
遗传学
外显子
突变
基因
错义突变
分子生物学
RNA剪接
移码突变
作者
Xiong Wang,Na Shen,Ming Huang,Yanjun Lu,Qun Hu
出处
期刊:Haematologica
[Ferrata Storti Foundation]
日期:2018-02-15
卷期号:103 (5)
被引量:5
标识
DOI:10.3324/haematol.2017.186551
摘要
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
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