Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family

International Journal of Hematology

Volumn 99, Issue 4, 2014, Pages 487-492

  Li, Shufeng ^a   Xue, Jun ^b   Chen, Baojun ^c   Wang, Qiwei ^a   Shi, Minke ^c   Xie, Xiaojing ^b   Zhang, Liang ^a  

^a MEDICAL SCHOOL OF SOUTHEAST UNIVERSITY   (China)

^b NANJING MEDICAL UNIVERSITY   (China)

^c MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

Author keywords

Hemochromatosis; HJV mutation; Iron overload; Phenotype

Indexed keywords

ALANINE AMINOTRANSFERASE; BONE MORPHOGENETIC PROTEIN; FERRITIN; FURIN; GLUCOSE; HEMOGLOBIN; HEMOJUVELIN; HEPCIDIN; IRON; MATRIPTASE; SIGNAL PEPTIDE; TESTOSTERONE; TRANSFERRIN; TROPONIN I; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; HFE2 PROTEIN, HUMAN;

ADULT; AGED; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CARDIOMYOPATHY; CASE REPORT; CHINESE; CONSANGUINEOUS MARRIAGE; DYSPNEA; FATIGUE; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENOTYPE; GLUCOSE BLOOD LEVEL; HEART FAILURE; HEART VENTRICLE TACHYCARDIA; HEMOCHROMATOSIS; HEMOGLOBIN BLOOD LEVEL; HEREDITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERGLYCEMIA; HYPERTRANSAMINASEMIA; IRON BLOOD LEVEL; IRON OVERLOAD; MALE; MIDDLE AGED; NONSENSE MUTATION; ONSET AGE; PHLEBOTOMY; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; SKIN PIGMENTATION; TESTOSTERONE BLOOD LEVEL; WESTERN BLOTTING; AGE; ALLELE; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; CHINA; COMPUTER ASSISTED TOMOGRAPHY; GENETICS; LIVER; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

ADULT; AGE FACTORS; AGED; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GPI-LINKED PROTEINS; HEMOCHROMATOSIS; HETEROZYGOTE; HUMANS; LIVER; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84899638946     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-014-1547-5     Document Type: Article

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