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Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form.

British journal of haematology - 1 Sept 2012

Pellegrino Rosa M, Coutinho Maria, D'Ascola Domenico, Lopes Ana M, Palmieri Antonietta, Carnuccio Francesca, Costa Mónica, Zecchina Gabriella, Saglio Giuseppe, Costa Emília, Barbot José, Porto Graça, Pinto Jorge P, Roetto Antonella

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PMID: 22765023
DOI: 10.1111/j.1365-2141.2012.09198.x

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