Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

Nature Genetics

Volumn 40, Issue 5, 2008, Pages 569-571

  Finberg, Karin E ^a,b,k   Heeney, Matthew M ^b,c   Campagna, Dean R ^b   Aydinok, Yeşim ^d   Pearson, Howard A ^e   Hartman, Kip R ^f   Mayo, Mary M ^g   Samuel, Stewart M ^h   Strouse, John J ⁱ   Markianos, Kyriacos ^b,j   Andrews, Nancy C ^b,j,k   Fleming, Mark D ^b,j  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c DANA FARBER CANCER INSTITUTE   (United States)

^d EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^g SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h Pediatric Health Associates   (United States)

ⁱ JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j HARVARD MEDICAL SCHOOL   (United States)

^k DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

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Author keywords

[No Author keywords available]

Indexed keywords

HEPCIDIN; IRON; SERINE PROTEINASE; TRANSMEMBRANE SERINE PROTEASE 2;

ARTICLE; DNA POLYMORPHISM; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; IRON DEFICIENCY ANEMIA; LIVER CELL; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION;

ADOLESCENT; ANEMIA, IRON-DEFICIENCY; CHILD; CHILD, PRESCHOOL; FEMALE; GERM-LINE MUTATION; HOMEOSTASIS; HUMANS; INFANT; IRON; MALE; MEMBRANE PROTEINS; PROTEIN STRUCTURE, TERTIARY; SERINE ENDOPEPTIDASES;

EID: 42649118442     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.130     Document Type: Article

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