title: Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene.
authors.forename: Luigia
authors.initials: L
authors.lastname: De Falco
authors.forename: Mariasole
authors.initials: M
authors.lastname: Bruno
authors.forename: Immacolata
authors.initials: I
authors.lastname: Andolfo
authors.forename: Beneitez Pastor
authors.initials: BP
authors.lastname: David
authors.forename: Domenico
authors.initials: D
authors.lastname: Girelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Noce
authors.forename: Clara
authors.initials: C
authors.lastname: Camaschella
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
mesh_terms: D000483:Alleles; D017398:Alternative Splicing; D000740:Anemia / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins / Q000096:biosynthesis / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA; D000099236:Solute Carrier Family 11, Member 2
chemical_list: D027682:Cation Transport Proteins; D000099236:Solute Carrier Family 11, Member 2