Literature DB >> 22428539

A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively.

Gang Liu, Shiwen Niu, Ailian Dong, Hao Cai, Gregory J Anderson, Bing Han, Guangjun Nie.   

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Year:  2012        PMID： 22428539     DOI： 10.1111/j.1365-2141.2012.09102.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  5 in total

1.  Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.

Authors:  Rami Khoriaty; Matthew P Vasievich; Morgan Jones; Lesley Everett; Jennifer Chase; Jiayi Tao; David Siemieniak; Bin Zhang; Ivan Maillard; David Ginsburg
Journal:  Mol Cell Biol       Date:  2014-07-28       Impact factor: 4.272

2.  Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.

Authors:  Timothy J Satchwell; Stephanie Pellegrin; Paola Bianchi; Bethan R Hawley; Alexandra Gampel; Kathryn E Mordue; Annika Budnik; Elisa Fermo; Wilma Barcellini; David J Stephens; Emile van den Akker; Ashley M Toye
Journal:  Haematologica       Date:  2013-08-09       Impact factor: 9.941

Review 3.  Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Authors:  Xiaomu Kong; Lingding Xie; Haiqing Zhu; Lulu Song; Xiaoyan Xing; Wenying Yang; Xiaoping Chen
Journal:  Orphanet J Rare Dis       Date:  2019-07-08       Impact factor: 4.123

Review 4.  Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.

Authors:  Achille Iolascon; Maria Rosaria Esposito; Roberta Russo
Journal:  Haematologica       Date:  2012-10-12       Impact factor: 9.941

5.  Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.

Authors:  Roberta Russo; Concetta Langella; Maria Rosaria Esposito; Antonella Gambale; Francesco Vitiello; Fara Vallefuoco; Torben Ek; Elizabeth Yang; Achille Iolascon
Journal:  Blood Cells Mol Dis       Date:  2013-03-01       Impact factor: 3.039
  5 in total

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