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

Luigia De Falco; Mariasole Bruno; Immacolata Andolfo; Beneitez Pastor David; Domenico Girelli; Francesca Di Noce; Clara Camaschella; Achille Iolascon

doi:10.1111/bjh.12062

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

Luigia De Falco, Mariasole Bruno, Immacolata Andolfo, Beneitez Pastor David, Domenico Girelli, Francesca Di Noce, Clara Camaschella, Achille Iolascon

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	492-495
Number of pages	4
Journal	British Journal of Haematology
Volume	159
Issue number	4
DOIs	https://doi.org/10.1111/bjh.12062
Publication status	Published - Nov 2012

Keywords

Erythropoiesis
Iron
Red cell
SLC11A2

ASJC Scopus subject areas

Hematology

Access to Document

10.1111/bjh.12062

Cite this

De Falco, L., Bruno, M., Andolfo, I., David, B. P., Girelli, D., Noce, F. D., Camaschella, C., & Iolascon, A. (2012). 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. British Journal of Haematology, 159(4), 492-495. https://doi.org/10.1111/bjh.12062

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. / De Falco, Luigia; Bruno, Mariasole; Andolfo, Immacolata; David, Beneitez Pastor; Girelli, Domenico; Noce, Francesca Di; Camaschella, Clara; Iolascon, Achille.

In: British Journal of Haematology, Vol. 159, No. 4, 11.2012, p. 492-495.

Research output: Contribution to journal › Article › peer-review

De Falco, L, Bruno, M, Andolfo, I, David, BP, Girelli, D, Noce, FD, Camaschella, C & Iolascon, A 2012, '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', British Journal of Haematology, vol. 159, no. 4, pp. 492-495. https://doi.org/10.1111/bjh.12062

De Falco, Luigia ; Bruno, Mariasole ; Andolfo, Immacolata ; David, Beneitez Pastor ; Girelli, Domenico ; Noce, Francesca Di ; Camaschella, Clara ; Iolascon, Achille. / 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. In: British Journal of Haematology. 2012 ; Vol. 159, No. 4. pp. 492-495.

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