Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload

American Journal of Hematology

Volumn 91, Issue 4, 2016, Pages 420-425

  Badar, Sadaf ^a   Busti, Fabiana ^a   Ferrarini, Alberto ^b   Xumerle, Luciano ^b   Bozzini, Paolo ^a   Capelli, Paola ^c   Pozzi Mucelli, Roberto ^b   Campostrini, Natascia ^a   De Matteis, Giovanna ^c   Marin Vargas, Sergio ^b   Giorgetti, Alejandro ^b   Delledonne, Massimo ^b   Olivieri, Oliviero ^a   Girelli, Domenico ^a,c  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL PRACTICE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; MALE; MIDDLE AGED; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; BIOPSY; CHEMICAL STRUCTURE; CHEMISTRY; COMPLICATION; DNA MUTATIONAL ANALYSIS; GENETICS; HIGH THROUGHPUT SEQUENCING; ITALY; LIVER; META ANALYSIS (TOPIC); METABOLISM; MUTATION; PATHOLOGY; PROTEIN CONFORMATION;

BIOLOGICAL MARKER; HAMP PROTEIN, HUMAN; HEPCIDIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; TFR2 PROTEIN, HUMAN; TRANSFERRIN RECEPTOR;

ADULT; AGED; BIOMARKERS; BIOPSY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HEMOCHROMATOSIS; HEPCIDINS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; ITALY; LIVER; MALE; MEMBRANE PROTEINS; META-ANALYSIS AS TOPIC; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; RECEPTORS, TRANSFERRIN;

EID: 84961266483     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.24304     Document Type: Article

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