Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome

Clinical Genetics

Volumn 76, Issue 5, 2009, Pages 493-495

  Brakensiek, Kai ^a   Fegbeutel, Christine ^b   Mälzer, Madeleine ^a   Strüber, Martin ^b   Kreipe, Hans ^c   Stuhrmann, Manfred ^a  

^a Institute of Human Genetics   (Germany)

^b Vascular Surgery   (Germany)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOJUVELIN;

ABDOMINAL DISEASE; ADULT; ANGIOCARDIOGRAPHY; ASCITES; AUTOSOMAL RECESSIVE DISORDER; CARDIOGENIC SHOCK; CASE REPORT; CAUSE OF DEATH; DEFIBRILLATOR; DISEASE COURSE; FATALITY; FORWARD HEART FAILURE; GENE MUTATION; GENOTYPE; HEART ARRHYTHMIA; HEART ASSIST DEVICE; HEART ATRIUM FIBRILLATION; HEART MUSCLE BIOPSY; HEART RIGHT VENTRICLE FAILURE; HEART VENTRICLE FIBRILLATION; HEMOCHROMATOSIS; HISTOPATHOLOGY; HOMOZYGOSITY; HOSPITAL READMISSION; HUMAN; IRON OVERLOAD; LETTER; MALE; MULTIPLE ORGAN FAILURE; OUTCOME ASSESSMENT; OXYGENATOR; PATIENT TRANSPORT; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RESUSCITATION;

ADOLESCENT; ADULT; FATAL OUTCOME; FEMALE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION;

EID: 70449401512     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01261.x     Document Type: Letter

References (9)

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