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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...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2010
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Materias: | |
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 |