HFE gene mutations in patients with primary iron overload: Is there a significant improvement in molecular diagnosis yield with HFE sequencing?

Blood Cells, Molecules, and Diseases

Volumn 45, Issue 4, 2010, Pages 302-307

  Santos, Paulo C J L ^a   Pereira, Alexandre C ^a   Cançado, Rodolfo D ^b   Schettert, Isolmar T ^a,c   Sobreira, Tiago J P ^a   Oliveira, Paulo S L ^a   Hirata, Rosario D C ^a   Hirata, Mario H ^a   Figueiredo, Maria Stella ^d   Chiattone, Carlos S ^b   Krieger, Jose E ^a   Guerra Shinohara, Elvira M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

^c Novo Atibaia Hospital   (Brazil)

^d FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Hemochromatosis; HFE; Molecular modeling; Primary iron overload; Sequencing

Indexed keywords

BETA 2 MICROGLOBULIN; HFE PROTEIN; TRANSFERRIN;

ADULT; ARTICLE; BINDING AFFINITY; BRAZIL; COMPUTER MODEL; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR DYNAMICS; MOLECULAR MODEL; MUTATION RATE; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEX RATIO; SIMULATION; TRANSFERRIN BLOOD LEVEL;

BRAZIL; GENETIC TESTING; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; MEMBRANE PROTEINS; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PATHOLOGY, MOLECULAR; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, DNA;

EID: 78649447212     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.08.008     Document Type: Article

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