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Published in: Annals of Hematology 10/2022

21-06-2022 | Letter to the Editor

Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population

Authors: Xiao-Dong Liu, Kun Yang, Jian Xiao, Hui Huang, Xiao-Dan Zhang, Jing-Yuan Huang

Published in: Annals of Hematology | Issue 10/2022

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Excerpt

Dear Editor, …
Literature
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go back to reference 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):60–66CrossRef 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):60–66CrossRef
2.
go back to reference Perrotta S, Gallagher PG, Mohandas N (2008) Hereditary spherocytosis. Lancet 372(9647):1411–1426CrossRef Perrotta S, Gallagher PG, Mohandas N (2008) Hereditary spherocytosis. Lancet 372(9647):1411–1426CrossRef
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go back to reference 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 39:86–91CrossRef 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 39:86–91CrossRef
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go back to reference 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):50–55CrossRef 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):50–55CrossRef
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go back to reference Yang X, Wang W, Fan W et al (2022) Hereditary spherocytosis with liver transplantation after cirrhosis: a case report. Front Med (Lausanne) 9:823724CrossRef Yang X, Wang W, Fan W et al (2022) Hereditary spherocytosis with liver transplantation after cirrhosis: a case report. Front Med (Lausanne) 9:823724CrossRef
Metadata
Title
Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population
Authors
Xiao-Dong Liu
Kun Yang
Jian Xiao
Hui Huang
Xiao-Dan Zhang
Jing-Yuan Huang
Publication date
21-06-2022
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 10/2022
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-022-04900-0

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