title: Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients.
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA.
authors.forename: Pauline L
authors.initials: PL
authors.lastname: Lee
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Reid
authors.forename: Sylvia S
authors.initials: SS
authors.lastname: Bottomley
authors.forename: James C
authors.initials: JC
authors.lastname: Barton
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000328:Adult; D001741:Black or African American; D019943:Amino Acid Substitution; D000756:Anemia, Sideroblastic / Q000208:ethnology / Q000235:genetics*; D002648:Child; D056726:Genetic Association Studies; D040181:Genetic Diseases, X-Linked; D006801:Humans; D019190:Iron Overload / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index; D014481:United States
chemical_list: D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human