Article
A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.
Biochimica et biophysica acta. Molecular basis of disease - 1 Jan 2023
Xu Linlin, Wei Xiaofeng, Liang Guanxia, Zhu Dina, Zhang Yanxia, Zhang Yang, Shang Xuan
Abstract excerpt
Hereditary spherocytosis (HS) is a common hematological genetic disorder that results in anemia, jaundice and splenomegaly. It is caused by mutations in the ANK1, SPTA, SPTB, SLC4A1 and EPB42 genes, which encode red blood cell membrane and skeletal proteins. Patients show high heterogeneity in phenotype and genotype and the genotype-phenotype correlation still requires clarification. Here, a novel splicing...
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