title: Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38.
authors.affiliation: Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.
authors.forename: Wai-shan
authors.initials: WS
authors.lastname: Wong
authors.affiliation: Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.
authors.forename: Hung-fan
authors.initials: HF
authors.lastname: Wong
authors.affiliation: Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, New Territories, Hong Kong.
authors.forename: Chi-keung
authors.initials: CK
authors.lastname: Cheng
authors.affiliation: Department of Paediatrics and Adolescences, Queen Elizabeth Hospital, Kowloon, Hong Kong.
authors.forename: Kai-on
authors.initials: KO
authors.lastname: Chang
authors.affiliation: Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, New Territories, Hong Kong.
authors.forename: Natalie Pui-ha
authors.initials: NP
authors.lastname: Chan
authors.affiliation: Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, New Territories, Hong Kong.
authors.forename: Margaret Heung-ling
authors.initials: MH
authors.lastname: Ng
authors.affiliation: Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.
authors.forename: Kit-fai
authors.initials: KF
authors.lastname: Wong
mesh_terms: D000756:Anemia, Sideroblastic / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D015415:Biomarkers / Q000097:blood; D001803:Blood Transfusion; D001856:Bone Marrow Examination; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D010641:Phenotype
chemical_list: D015415:Biomarkers; D033681:Mitochondrial Membrane Transport Proteins; C553226:Slc25a38 protein, human
keywords: BONE MARROW; DIAGNOSIS; GENETICS