Novel TMPRSS6 mutations associated with Iron-refractory Iron Deficiency Anemia (IRIDA)

Human Mutation

Volumn 31, Issue 5, 2010, Pages

  De Falco, Luigia ^a   Totaro, Francesca ^a   Nai, Antonella ^b   Pagani, Alessia ^b   Girelli, Domenico ^c   Silvestri, Laura ^b   Piscopo, Carmelo ^a   Campostrini, Natascia ^c   Dufour, Carlo ^d   Al Manjomi, Fahd ^e   Minkov, Milen ^f   Van Vuurden, Dennis G ^g   Feliu, Aurora ^h   Kattamis, Antonis ⁱ   Camaschella, Clara ^b   Iolascon, Achille ^a,j  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e KING FAHAD MEDICAL CITY   (Saudi Arabia)

^f Kinderspitalgasse   (Austria)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

ⁱ UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^j UNIVERSITY OF NAPLES FEDERICO II   (Italy)

more..

Author keywords

IRIDA; Iron metabolism; Microcytic anemia; TMPRSS6

Indexed keywords

FERROUS GLUCONATE; HEPCIDIN; IRON; MATRIPTASE; MATRIPTASE 2; MESSENGER RNA; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE ACTIVATION; GENE EXPRESSION; GENE MUTATION; GENETIC CONSERVATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IRON DEFICIENCY ANEMIA; IRON REFRACTORY IRON DEFICIENCY ANEMIA; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEGRADATION; PROTEIN DOMAIN; SCHOOL CHILD; SILENT MUTATION;

ANEMIA, IRON-DEFICIENCY; ANTIMICROBIAL CATIONIC PEPTIDES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; PEDIGREE; SERINE ENDOPEPTIDASES;

EID: 77951822044     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21243     Document Type: Article

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