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Annals of Hematology
Published in: Annals of Hematology 4/2019

Open Access 01-04-2019 | Anemia | Letter to the Editor

A case report of congenital erythropoietic anemia II in China with a novel mutation

Authors: Hong Zhang, Wuqing Wan, Xiaoyan Liu, Chuan Wen, Ying Liu, Senlin Luo, Xiao Sun, Shizhe Liu

Published in: Annals of Hematology | Issue 4/2019

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Excerpt

Dear Editor, …
Appendix
Available only for authorised users
Literature
1.
Lolascon A, D’Agostaro G, Perrotta S et al (1996) Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects.[J]. Haematologica 81(6):543
2.
Lolascon A, Esposito MR, Russo R (2012) Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.[J]. Haematologica 97(12):1786–1794CrossRef
3.
Lolascon A, Russo R, Esposito MR et al (2010) Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.[J]. Haematologica 95(5):708–715CrossRef
4.
Russo R, Esposito MR, Asci R, Gambale A, Perrotta S, Ramenghi U, Forni GL, Uygun V, Delaunay J, Iolascon A (2010) Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.[J]. Am J Hematol 85(12):915–920CrossRefPubMedPubMedCentral
5.
Wang Y, Ru Y, Liu G et al (2017) Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia.[J]. Gene 640:73CrossRefPubMed
Metadata
Title
A case report of congenital erythropoietic anemia II in China with a novel mutation
Authors
Hong Zhang
Wuqing Wan
Xiaoyan Liu
Chuan Wen
Ying Liu
Senlin Luo
Xiao Sun
Shizhe Liu
Publication date
01-04-2019
Publisher
Springer Berlin Heidelberg
Keyword
Anemia
Published in
Annals of Hematology / Issue 4/2019
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-019-03612-2

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