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Blood Cells, Molecules, and Diseases

Volumn 35, Issue 2, 2005, Pages 174-176

Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient

(6) Daraio, F a Ryan, E b Gleeson, F b Roetto, A a Crowe, J b Camaschella, C c

a UNIVERSITY OF TURIN (Italy)

b MATER MISERICORDIAE UNIVERSITY HOSPITAL (Ireland)

c VITA SALUTE SAN RAFFAELE UNIVERSITY (Italy)

Author keywords

Hemojuvelin; Iron metabolism; Juvenile hemochromatosis

Indexed keywords

HEMOJUVELIN; HEPCIDIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE SEVERITY; DNA DETERMINATION; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HEART DISEASE; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; INFORMED CONSENT; INTRON; IRON OVERLOAD; LABORATORY TEST; LIFESTYLE; MOLECULAR BIOLOGY; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON;

ADOLESCENT; AMINO ACID SUBSTITUTION; CODON, NONSENSE; FEMALE; HEART DISEASES; HEMOCHROMATOSIS; HETEROZYGOTE; HUMANS; IRELAND; IRON OVERLOAD; MEMBRANE PROTEINS; MUTATION, MISSENSE;

EID: 24644480899 PISSN: 10799796 EISSN: None Source Type: Journal
DOI: 10.1016/j.bcmd.2005.02.001 Document Type: Article

Times cited : (24)

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