Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Guernsey, Duane L, Jiang, Haiyan, Campagna, Dean R, Evans, Susan C, Ferguson, Meghan, Kellogg, Mark D, Lachance, Mathieu, Matsuoka, Makoto, Nightingale, Mathew, Rideout, Andrea, Saint-Amant, Louis, Schmidt, Paul J, Orr, Andrew, Bottomley, Sylvia S, Fleming, Mark D, Ludman, Mark, Dyack, Sarah, Fernandez, Conrad V, Samuels, Mark E·2009·Nature Genetics
DOI 10.1038/ng.359

Cited by (258)

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  21. immunodeficiency, periodic fevers, and developmental delay (SIFD) A novel syndrome of congenital sideroblastic anemia, B-cell
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  27. Elegant Biology: Glycine- and Folate-correctable SLC25A38-mutated Sideroblastic Anemia
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  28. Hereditary sideroblastic anemia: pathophysiology and gene mutations
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  32. Differential Expression of SLC25A38 Gene in Patients of Acute Lymphoblastic Leukaemia
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  40. Additional file 4 of Identification of crucial genes and metabolites regulating the eggshell brownness in chicken
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  42. Additional file 1 of Identification of crucial genes and metabolites regulating the eggshell brownness in chicken
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  44. Additional file 7 of Identification of crucial genes and metabolites regulating the eggshell brownness in chicken
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  45. Additional file 2 of Identification of crucial genes and metabolites regulating the eggshell brownness in chicken
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  46. Additional file 6 of Identification of crucial genes and metabolites regulating the eggshell brownness in chicken
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  51. Additional file 1 of Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
    Aleksandra Oszer, Katarzyna Bąbol‐Pokora, Sylwia Kołtan · 2021 · Figshare
  52. Additional file 2 of Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
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  58. CRISPR/Cas9‐Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia
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