title: A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Soo Young
authors.initials: SY
authors.lastname: Moon
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: In-Jae
authors.initials: IJ
authors.lastname: Jun
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Ji-Eun
authors.initials: JE
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Seung Jun
authors.initials: SJ
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hyun Kyung
authors.initials: HK
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Sung-Soo
authors.initials: SS
authors.lastname: Yoon
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000737:chemistry / Q000235:genetics*; D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics* / Q000473:pathology; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D057898:Hemizygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea
chemical_list: D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human