A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin

Acta Haematologica

Volumn 115, Issue 1-2, 2006, Pages 123-127

  Lee, Pauline ^a   Promrat, Kittichai ^b,c   Mallette, Carol ^b   Flynn, Maura ^c   Beutler, Ernest ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b BROWN UNIVERSITY   (United States)

^c PROVIDENCE VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Hemochromatosis; Hemojuvelin; Iron overload

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; FERROPORTIN 1; HEMOJUVELIN; HEPCIDIN; HFE PROTEIN; NUCLEOTIDE; TRANSFERRIN RECEPTOR 2;

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGESTIVE HEART FAILURE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IRON OVERLOAD; LIVER CIRRHOSIS; LIVER FUNCTION TEST; PHLEBOTOMY; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; GUANINE NUCLEOTIDES; HEMOCHROMATOSIS; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; PEDIGREE; SEQUENCE DELETION;

EID: 31144473093     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000089479     Document Type: Article

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