Three kinships with ALAS2 P520L (c. 1559 C → T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload

Blood Cells, Molecules, and Diseases

Volumn 36, Issue 2, 2006, Pages 292-297

  Lee, Pauline L ^a   Barton, James C ^b,c   Rao, Sreenivas V ^d   Acton, Ronald T ^c,e   Adler, Brian K ^b   Beutler, Ernest ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b SOUTHERN IRON DISORDERS CENTER   (United States)

^c University of Alabama at Birmingham   (United States)

^d Carolina Health Care   (United States)

^e UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Hemochromatosis; Iron overload; Modifier; Mutation; X linked sideroblastic anemia

Indexed keywords

AMINOLEVULATE SYNTHASE 2; HFE PROTEIN; SYNTHETASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIDEROBLASTIC ANEMIA; WILD TYPE; X LINKED SIDEROBLASTIC ANEMIA;

5-AMINOLEVULINATE SYNTHETASE; ADULT; AGED; ANEMIA, SIDEROBLASTIC; CONTINENTAL POPULATION GROUPS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; PEDIGREE; POINT MUTATION;

DANIO RERIO;

EID: 33645299594     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2005.12.004     Document Type: Article

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