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Article

Genetic variability of TMPRSS6 and its association with iron deficiency anaemia.

British journal of haematology - 1 Nov 2010

Delbini Paola, Vaja Valentina, Graziadei Giovanna, Duca Lorena, Nava Isabella, Refaldi Chiara, Cappellini Maria D

Abstract excerpt

Transmembrane Protease, Serine 6 (TMPRSS6) has an important role in iron homeostasis and its mutations, performed in TMPRSS6-deficient mice, have been recently associated with iron-refractory iron deficiency anaemia (IRIDA). Several variants of TMPRSS6 have been already identified; however the ro...

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Share to Anemia, Iron-Deficiency
Share to Genetic Predisposition to Disease
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Linkage Disequilibrium

Share to Membrane Proteins

Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 20738301
DOI: 10.1111/j.1365-2141.2010.08349.x

Genes

TMPRSS6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20738301-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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