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

IRIDA (iron-refractory iron-deficiency anaemia) is a rare autosomal-recessive disorder hallmarked by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in the transmembrane serine protease TMPRSS6 (tra...

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Detalles Bibliográficos
Autores principales:	Altamura, Sandro, D'Alessio, Flavia, Selle, Barbara, Muckenthaler, Martina U.
Formato:	Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2010
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958558/ https://www.ncbi.nlm.nih.gov/pubmed/20704562 http://dx.doi.org/10.1042/BJ20100668

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