Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis

Blood Cells, Molecules, and Diseases

Volumn 48, Issue 3, 2012, Pages 179-182

  Hattori, Ai ^a,c   Tomosugi, Naohisa ^b   Tatsumi, Yasuaki ^c   Suzuki, Ayami ^c   Hayashi, Kazuhiko ^d   Katano, Yoshiaki ^d   Inagaki, Yasutaka ^e   Ishikawa, Tetsuya ^a   Hayashi, Hisao ^c   Goto, Hidemi ^d   Wakusawa, Shinya ^a  

^a NAGOYA UNIVERSITY   (Japan)

^b KANAZAWA MEDICAL UNIVERSITY   (Japan)

^c AICHI GAKUIN UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e NIPPON KOKAN HOSPITAL   (Japan)

Author keywords

Diabetes; HAMP; Hemochromatosis; Hepcidin; Iron overload; LC MS MS

Indexed keywords

FERRITIN; HEPCIDIN; IRON; TRANSFERRIN;

ADULT; ARTICLE; CASE REPORT; DIABETES MELLITUS; EXON; EXON 3; EXON 5; FERRITIN BLOOD LEVEL; GENE; GENOME ANALYSIS; HAMP GENE; HEMATOLOGICAL PARAMETERS; HEMOCHROMATOSIS; HETEROZYGOSITY; HFE GENE; HJV GENE; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; HYPOGONADISM; IRON BLOOD LEVEL; IRON OVERLOAD; JAPANESE; JUVENILE HEMOCHROMATOSIS; LIQUID CHROMATOGRAPHY; LIVER DYSFUNCTION; LIVER HISTOLOGY; LIVER INJURY; MALE; MASS SPECTROMETRY; MEDICAL HISTORY; NONSENSE MUTATION; PHLEBOTOMY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN URINE LEVEL; SEQUENCE ANALYSIS; SKIN PIGMENTATION; SLC40A1 GENE; TFR2 GENE; TRANSFERRIN SATURATION; WEIGHT REDUCTION;

AMINO ACID SEQUENCE; ANTIMICROBIAL CATIONIC PEPTIDES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMANS; JAPAN; LIVER; MALE; MIDDLE AGED; MUTATION;

EID: 84857642455     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.01.002     Document Type: Article

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