A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

Haematologica

Volumn 93, Issue 10, 2008, Pages 1473-1479

  Melis, Maria Antonietta ^a   Cau, Milena ^a   Congiu, Rita ^a   Sole, Gabriella ^b   Barella, Susanna ^c   Cao, Antonio ^b   Westerman, Mark ^d   Cazzola, Mario ^e   Galanello, Renzo ^a,c  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b CNR   (Italy)

^c Osp Regionale per le Microcitemie   (Italy)

^d Intrinsic LifeSciences LLC   (United States)

^e UNIVERSITY OF PAVIA   (Italy)

Author keywords

Anemia; Hepcidin; Iron deficiency; Matriptase 2; Serine protease; TMPRSS6

Indexed keywords

CARRIER PROTEIN; HEMOJUVELIN; HEPCIDIN; IRON; MATRIPTASE; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; SERINE PROTEINASE; TRANSFERRIN RECEPTOR; TRANSMEMBRANE SERINE PROTEASE S6; UNCLASSIFIED DRUG; ZINC IRON REGULATED TRANSPORTER LIKE PROTEIN;

ADULT; ARTICLE; CHROMOSOME 22Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; IRON DEFICIENCY ANEMIA; IRON METABOLISM; MALE; MICROSATELLITE MARKER; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADMINISTRATION, ORAL; ADOLESCENT; ADULT; ANEMIA, IRON-DEFICIENCY; ANTIMICROBIAL CATIONIC PEPTIDES; BASE SEQUENCE; CELL MEMBRANE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMOGLOBINS; HUMANS; IRON; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; SERINE ENDOPEPTIDASES;

EID: 54349094273     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.13342     Document Type: Article

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