Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing

Blood Transfusion

Volumn 14, Issue , 2016, Pages 531-534

  Ferbo, Ludovica ^a   Manzini, Paola M ^b   Badar, Sadaf ^c   Campostrini, Natascia ^c   Ferrarini, Alberto ^d   Delledonne, Massimo ^d   Francisci, Tiziana ^b   Tassi, Valter ^b   Valfrè, Adriano ^b   Dall'Omo, Anna M ^b   D'Antico, Sergio ^b   Girelli, Domenico ^c   Roetto, Antonella ^a   De Gobbi, Marco ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

^d UNIVERSITY OF VERONA   (Italy)

Author keywords

Ferroportin; Haemochromatosis; Hepcidin; Next generation sequencing

Indexed keywords

DEFEROXAMINE; FERRITIN; FERROPORTIN; HEPCIDIN; TRANSFERRIN; AMINOTRANSFERASE;

ADULT; ARTHRITIS; ARTICLE; CASE REPORT; CHELATION THERAPY; CHRONIC LIVER DISEASE; DISEASE SEVERITY; ELASTOGRAPHY; FERRITIN BLOOD LEVEL; GENE MUTATION; GENE TECHNOLOGY; GENETIC POLYMORPHISM; HUMAN; HYPERFERRITINEMIA; HYPERTRANSAMINASEMIA; IRON DEPLETION; IRON OVERLOAD; ITALIAN (CITIZEN); LIVER FIBROSIS; MALE; MIDDLE AGED; NEXT GENERATION SEQUENCING; PHENOTYPE; PHLEBOTOMY; SPLENOMEGALY; SURFACE ENHANCED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; AMPLICON; APHERESIS; DISEASE COURSE; ERYTHROAPHERESIS; FAMILY HISTORY; FATTY LIVER; FERROPORTIN GENE; GENE; GENETIC ANALYSIS; HEMOCHROMATOSIS; HEREDITARY HEMOCHROMATOSIS; LIVER DISEASE; MAINTENANCE THERAPY;

EID: 84994486589     PISSN: 17232007     EISSN: None     Source Type: Journal    
DOI: 10.2450/2016.0286-15     Document Type: Article

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