Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA

(2010) Sandro Altamura et al.   BIOCHEMICAL JOURNAL

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)

(2010) Luigia De Falco et al.   HUMAN MUTATION

Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders

(2010) Yoshibumi Kaneko et al.   JOURNAL OF GASTROENTEROLOGY

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

(2009) L. Silvestri et al.   BLOOD

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

(2009) E. Beutler et al.   BLOOD CELLS MOLECULES AND DISEASES

A novel splice site mutation c.2278 (−1) G>C in theTMPRSS6gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia

(2009) Eunice S. Edison et al.   BRITISH JOURNAL OF HAEMATOLOGY

Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia

(2009) Isabelle Tchou et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms

(2009) Andrew J. Ramsay et al.   HUMAN MOLECULAR GENETICS

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

(2008) F. Guillem et al.   BLOOD

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

(2008) M. A. Melis et al.   HAEMATOLOGICA

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

(2008) Karin E Finberg et al.   NATURE GENETICS