Functional characterization of the E399D DMT1/NRAMP2/SLC11A2 protein produced by an exon 12 mutation in a patient with microcytic anemia and iron overload

Blood Cells, Molecules, and Diseases

Volumn 35, Issue 2, 2005, Pages 212-216

  Lam Yuk Tseung, Steven ^a   Mathieu, Melissa ^a   Gros, Philippe ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

DMT1; Iron overload; Microcytic anemia

Indexed keywords

AMINO ACID; MUTANT PROTEIN; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2;

ANIMAL CELL; ARTICLE; CELL STRAIN; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; IRON OVERLOAD; KIDNEY CELL; MEMBRANE; MICROCYTIC ANEMIA; MUTATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN TARGETING; PROTEIN TRANSPORT; RNA SPLICING;

ADULT; ANEMIA; ANIMALS; CATION TRANSPORT PROTEINS; CELL LINE; ERYTHROCYTES, ABNORMAL; EXONS; FEMALE; HUMANS; IRON OVERLOAD; IRON-BINDING PROTEINS; MICE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; TRANSFECTION;

RODENTIA;

EID: 24644482572     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2005.05.008     Document Type: Article

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