Literature DB >> 25512395

Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38.

Wai-shan Wong1, Hung-fan Wong1, Chi-keung Cheng2, Kai-on Chang3, Natalie Pui-ha Chan2, Margaret Heung-ling Ng2, Kit-fai Wong1.   

Abstract

Entities:  

Keywords:  BONE MARROW; DIAGNOSIS; GENETICS

Mesh：

Substances：

Year:  2014        PMID： 25512395     DOI： 10.1136/jclinpath-2014-202211

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


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  4 in total

Review 1.  Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.

Authors:  Kazumichi Furuyama; Kiriko Kaneko
Journal:  Int J Hematol       Date:  2017-11-14       Impact factor: 2.490

2.  Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

Authors:  Mete Civelek; Ying Wu; Calvin Pan; Chelsea K Raulerson; Arthur Ko; Aiqing He; Charles Tilford; Niyas K Saleem; Alena Stančáková; Laura J Scott; Christian Fuchsberger; Heather M Stringham; Anne U Jackson; Narisu Narisu; Peter S Chines; Kerrin S Small; Johanna Kuusisto; Brian W Parks; Päivi Pajukanta; Todd Kirchgessner; Francis S Collins; Peter S Gargalovic; Michael Boehnke; Markku Laakso; Karen L Mohlke; Aldons J Lusis
Journal:  Am J Hum Genet       Date:  2017-03-02       Impact factor: 11.025

3.  Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia.

Authors:  Min Hee Kim; Sanjay Shah; Sylvia S Bottomley; Niketa C Shah
Journal:  Clin Case Rep       Date:  2018-08-01

Review 4.  SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Authors:  Matthew M Heeney; Simon Berhe; Dean R Campagna; Joseph H Oved; Peter Kurre; Peter J Shaw; Juliana Teo; Mayada A Shanap; Hoda M Hassab; Bertil E Glader; Sanjay Shah; Ayami Yoshimi; Afshin Ameri; Joseph H Antin; Jeanne Boudreaux; Michael Briones; Kathryn E Dickerson; Conrad V Fernandez; Roula Farah; Henrik Hasle; Sioban B Keel; Timothy S Olson; Jacquelyn M Powers; Melissa J Rose; Akiko Shimamura; Sylvia S Bottomley; Mark D Fleming
Journal:  Hum Mutat       Date:  2021-08-05       Impact factor: 4.878
  4 in total

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