Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A→T) in an African American male of West Indies descent

Clinical Genetics

Volumn 74, Issue 1, 2008, Pages 88-92

  Murugan, R C ^a   Lee, P L ^b   Kalavar, M R ^a   Barton, James C ^c,d,e  

^a BROOKDALE UNIVERSITY HOSPITAL AND MEDICAL CENTER   (United States)

^b SCRIPPS RESEARCH INSTITUTE   (United States)

^c SOUTHERN IRON DISORDERS CENTER   (United States)

^d University of Alabama at Birmingham   (United States)

^e NONE   (United States)

Author keywords

Hemochromatosis; Hemojuvelin; Hepatic cirrhosis; Stop codon mutation

Indexed keywords

FERRITIN; HEMOJUVELIN; IRON; TRANSFERRIN;

ADULT; AFRICAN AMERICAN; ALPHA THALASSEMIA; ARTICLE; CARIBBEAN ISLANDS; CASE REPORT; ELECTROPHORESIS; ERYTHROCYTE; EXON; FERRITIN BLOOD LEVEL; HEMOCHROMATOSIS; HEMOGLOBIN DETERMINATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERFERRITINEMIA; IRON OVERLOAD; IRON STORAGE; LIVER BIOPSY; LIVER CELL; LIVER CIRRHOSIS; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PHLEBOTOMY; PORTAL HYPERTENSION; PRIORITY JOURNAL; STOP CODON;

ADULT; AFRICAN AMERICANS; AGE OF ONSET; FERRITINS; HEMOCHROMATOSIS; HUMANS; HYPERTENSION, PORTAL; IRON OVERLOAD; LIVER CIRRHOSIS; MALE; MEMBRANE PROTEINS; PHENOTYPE; PHLEBOTOMY; WEST INDIES;

EID: 45149122228     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01017.x     Document Type: Article

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