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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Portland Press Ltd.
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2958558/ https://ncbi.nlm.nih.gov/pubmed/20704562 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20100668 |
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