Clinical manifestations of 17 chinese children with hereditary spherocytosis caused by novel mutations of the ank1 gene and phenotypic analysis

HIGHLIGHTS

  • who: . et al. from the Huazhong University of Science and Technology, China have published the Article: Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis, in the Journal: (JOURNAL)
  • how: The data showed that among the 17 mutations of the ANK1 there were five non-sense mutations five frameshift mutations three splicing mutations three missense mutations and one in-frame mutation.

SUMMARY

    (Bolton-Maggs et_al, 2012). Consequently, hemolytic anemia and increased erythropoiesis lead to reticulocytosis, hyperbilirubinemia, gallstones, and splenomegaly (Bolton . . .

     

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