Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man

European Journal of Haematology

Volumn 86, Issue 3, 2011, Pages 260-264

  Del Castillo Rueda, Alejandro ^a   Moreno Carralero, María Isabel ^b   Álvarez Sala Walther, Luis Antonio ^a   Cuadrado Grande, Nuria ^b   Enríquez De Salamanca, Rafael ^b   Méndez, Manuel ^b   Morán Jiménez, María Josefa ^b  

^a HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^b Instituto de Investigación Hospital 12 de Octubre ^*  (Spain)

Author keywords

Ferroportin hemochromatosis; Hereditary iron overload; HFE; SLC40A1

Indexed keywords

FERROPORTIN 1; HFE PROTEIN;

ADULT; ARTICLE; CASE REPORT; FLUSHING; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; LABORATORY TEST; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHLEBOTOMY; PRIORITY JOURNAL; SPAIN;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CATION TRANSPORT PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SPAIN;

EID: 79951592994     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2010.01565.x     Document Type: Article

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