A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro

American Journal of Hematology

Volumn 89, Issue 7, 2014, Pages 689-694

  Moreno Carralero, María Isabel ^a   Muñoz Muñoz, Juan Antonio ^b   Cuadrado Grande, Nuria ^a   López Rodríguez, Rafaela ^b   José Hernández Alfaro, María ^b   del Castillo Rueda, Alejandro ^c   Enríquez de Salamanca, Rafael ^a   Méndez, Manuel ^a   Morán Jiménez, María Josefa ^a  

^a Universidad Complutense   (Spain)

^b HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; BILIRUBIN; FERRITIN; FERROPORTIN; HEMOJUVELIN; HEPCIDIN; IRON; TRANSFERRIN RECEPTOR 2;

ADOLESCENT; ADULT; AGED; APHERESIS; ARTICLE; BILIRUBIN BLOOD LEVEL; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; CONSULTATION; CONTROLLED STUDY; ECHOGRAPHY; EMBRYO; ENZYME ACTIVITY; ERYTHROCYTAPHERESIS; FATTY LIVER; FEMALE; FERRITIN BLOOD LEVEL; FERROPORTIN DISEASE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ASSOCIATION; HEK293 CELL LINE; HEMOJUVELIN GENE; HEPCIDIN GENE; HETEROZYGOTE; HFE GENE; HUMAN; HUMAN CELL; HYPERFERRITINEMIA; IN VITRO STUDY; IRON BLOOD LEVEL; IRON METABOLISM; IRON METABOLISM DISORDER; IRON OVERLOAD; LIVER; MALE; MEDICAL HISTORY; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PENETRANCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REDUCTION; RELATIVE; REMISSION; RETICULOENDOTHELIAL SYSTEM; SARCOIDOSIS; SLC40A1 GENE; SPLEEN; THROMBOCYTE COUNT; TRANSFERRIN RECEPTOR 2 GENE;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CATION TRANSPORT PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; FERRITINS; GENOTYPE; HEK293 CELLS; HEPCIDINS; HUMANS; IRON; IRON OVERLOAD; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84902834920     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23714     Document Type: Article

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