A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings

Iron-refractory iron deficiency anemia (IRIDA) is an inherited iron metabolism disorder caused by mutations in TMPRSS6 gene encoding matriptase-2, which results in increased hepcidin synthesis. The hallmarks of the disease are hypochromic microcytic anemia, low transferrin saturation, slightl...

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Detalhes bibliográficos

Principais autores:	Seda Çakmaklı, Çiğdem Kaplan, Mehmet Uzunoğlu, Merve Büyükbayram, Emel Görgülü, Nurten Özkan Zarif, Ebru Yılmaz Keskin
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Hacettepe University Institute of Child Health 2020-02-01
coleção:	The Turkish Journal of Pediatrics
Assuntos:	TMPRSS6 hepcidin iron deficiency anemia matriptase-2
Acesso em linha:	https://turkjpediatr.org/article/view/416
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