Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population
Author:
Funder
the Key Science and Technology Project of Zigong
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00277-022-04900-0.pdf
Reference5 articles.
1. He BJ, Liao L, Deng ZF, Tao YF, Xu YC, Lin FQ (2018) Molecular genetic mechanisms of hereditary spherocytosis: current perspectives. Acta Haematol 139(1):60–66
2. Perrotta S, Gallagher PG, Mohandas N (2008) Hereditary spherocytosis. Lancet 372(9647):1411–1426
3. Hu S, Jue D, Albanese J, Wang Y, Liu Q (2019) Utilization of spectrins βI and βIII in diagnosis of hepatocellular carcinoma. Ann Diagn Pathol 39:86–91
4. Richmond CM, Campbell S, Foo HW et al (2020) Rapid identification of biallelic SPTB mutation in a neonate with severe congenital hemolytic anemia and liver failure. Mol Syndromol 11(1):50–55
5. Yang X, Wang W, Fan W et al (2022) Hereditary spherocytosis with liver transplantation after cirrhosis: a case report. Front Med (Lausanne) 9:823724
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