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Two novel mutations in TpreMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child

In an iron deficient child, oral iron repeatedly failed to improve the condition. Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. We propose that these mutations result in a novel variety of iron...

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Publicado no:Blood Cells Mol Dis
Main Authors: Yaish, Hassan M., Farrell, Colin P., Christensen, Robert D., MacQueen, Brianna C., Jackson, Laurie K., Trochez-Enciso, Jesus, Kaplan, Jerry, Ward, Diane M., Salah, Walid K., Phillips, John D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5656052/
https://ncbi.nlm.nih.gov/pubmed/28460265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2017.04.002
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