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A New Human NHERF1 Mutation Decreases Renal Phosphate Transporter NPT2a Expression by a PTH-Independent Mechanism

Marie Courbebaisse , Christine Leroy , Nadia Bakouh , Christine Salaün , Laurent Beck , et al.
PLoS ONE, 2012, 7 (4), pp.e34764. ⟨10.1371/journal.pone.0034764⟩
Journal articles inserm-03143483v1
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Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Flavia Guillem , Caroline Kannengiesser , Claire Oudin , Anne Lenoir , Pavle Matak , et al.
Human Mutation, 2012, 33 (9), pp.1388-96. ⟨10.1002/humu.22116⟩
Journal articles inserm-00748562v1