Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl

Haematologica

Volumn 92, Issue 3, 2007, Pages 421-422

  Aguilar Martinez, Patricia ^a,d   Chun, Yu Lok ^b   Cunat, Séverine ^a   Cadet, Estelle ^c   Robson, Kathryn ^b   Rochette, Jacques ^c  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

^d HÔPITAL SAINT ELOI   (France)

Author keywords

Hemojuvelin; HJV; Infant; Juvenil hemochromatosis

Indexed keywords

HEMOJUVELIN; HFE PROTEIN, HUMAN; HFE2 PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; IRON; MEMBRANE PROTEIN; MUTANT PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; FEMALE; GENE FREQUENCY; GENE MUTATION; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; PRESCHOOL CHILD; SCREENING; ADULT; AMINO ACID SUBSTITUTION; BLOOD; CHEMISTRY; EARLY DIAGNOSIS; EXON; GENETIC SCREENING; GENETICS; GENOTYPE; LETTER; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PROTEIN TERTIARY STRUCTURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; EXONS; FEMALE; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; MALE; MEMBRANE PROTEINS; MUTANT PROTEINS; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN STRUCTURE, TERTIARY; TRANSFERRIN;

EID: 34247648126     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.10701     Document Type: Article

References (10)

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