A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: Hyperferritinemia associated with a relatively low transferrin saturation of iron

Internal Medicine

Volumn 44, Issue 9, 2005, Pages 990-993

  Koyama, Chizu ^a   Wakusawa, Shinya ^b   Hayashi, Hisao ^c   Ueno, Toshio ^c   Suzuki, Rie ^a   Yano, Motoyoshi ^d   Saito, Hiroshi ^e   Okazaki, Toru ^f  

^a HOKURIKU UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY   (Japan)

^c Asanogawa General Hospital   (Japan)

^d NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e Kawamura Hospital   (Japan)

^f National Hospital Organization Mie Chuo Medical Center   (Japan)

Author keywords

Hemochromatosis; Reticuloendothelial

Indexed keywords

ARGININE; FERRITIN; IRON; PROTEIN SLC40A1; SERINE; TRANSFERRIN; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DISEASE ACTIVITY; DNA ISOLATION; EXON; FEMALE; FERROPORTIN DISEASE; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERFERRITINEMIA; IRON OVERLOAD; JAPAN; KUPFFER CELL; LIVER BIOPSY; LIVER FUNCTION TEST; MALE; MISSENSE MUTATION;

ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CATION TRANSPORT PROTEINS; DNA; FEMALE; FERRITINS; HEMOCHROMATOSIS; HETEROZYGOTE; HUMANS; IRON; IRON OVERLOAD; JAPAN; KUPFFER CELLS; LIVER; MALE; MUTATION, MISSENSE; TRANSFERRIN;

EID: 27844470641     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.44.990     Document Type: Article

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