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Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38
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Footnotes
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Contributors WSW, KFW and HFW contributed to the planning of work and wrote the manuscript. KOC performed the clinical work up and managed the patient. CKC, HFW, NPH-C and MHL-N were responsible for the molecular study. All authors approved the version of the manuscript being submitted.
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Competing interests None.
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Patient consent Obtained.
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Ethics approval Department of Pathology, Queen Elizabeth Hospital.
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Provenance and peer review Not commissioned; externally peer reviewed.