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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
2002 1
2005 2
2006 2
2007 1
2009 1
2010 1
2011 2
2012 2
2013 2
2014 1
2015 2
2016 3
2017 1
2018 1
2019 1
2020 3
2021 2
2022 1
2024 0

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PubMed for id: 54977

25 results

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Page 1
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD. Heeney MM, et al. Hum Mutat. 2021 Nov;42(11):1367-1383. doi: 10.1002/humu.24267. Epub 2021 Aug 5. Hum Mutat. 2021. PMID: 34298585 Free PMC article. Review.
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A. Kannengiesser C, et al. Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10. Haematologica. 2011. PMID: 21393332 Free PMC article.
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA, Fouquet C, Leblanc T, Touati M, Fouyssac F, Vermylen C, Jäkel N, Guichard JF, Maloum K, Toutain F, Lutz P, Perel Y, Manceau H, Kannengiesser C, Vannier JP. Le Rouzic MA, et al. Blood Cells Mol Dis. 2017 Jul;66:11-18. doi: 10.1016/j.bcmd.2017.07.003. Epub 2017 Jul 26. Blood Cells Mol Dis. 2017. PMID: 28772256
25 results