Disparate phenotypic expression of ALAS2 R452H (nt 1407 G → A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma

Blood Cells, Molecules, and Diseases

Volumn 36, Issue 3, 2006, Pages 342-346

  Barton, James C ^a,b   Lee, Pauline L ^c  

^a SOUTHERN IRON DISORDERS CENTER   (United States)

^b University of Alabama at Birmingham   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Missense mutation; Penetrance; Skewed X inactivation; TFR2 I449V; X chromosome

Indexed keywords

HFE PROTEIN; PYRUVATE KINASE;

ARTICLE; DNA DETERMINATION; DNA SEQUENCE; ERYTHROCYTE; GENE MUTATION; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; IRON OVERLOAD; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; X LINKED SIDEROBLASTIC ANEMIA;

5-AMINOLEVULINATE SYNTHETASE; ADULT; AMINO ACID SUBSTITUTION; ANEMIA, SIDEROBLASTIC; CARCINOMA, HEPATOCELLULAR; FAMILY; FATAL OUTCOME; FEMALE; GENETIC DISEASES, X-LINKED; HEMOCHROMATOSIS; HUMANS; LIVER CIRRHOSIS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION;

EID: 33646823634     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.01.010     Document Type: Article

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