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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Seda Çakmaklı, Çiğdem Kaplan, Mehmet Uzunoğlu, Merve Büyükbayram, Emel Görgülü, Nurten Özkan Zarif, Ebru Yılmaz Keskin
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Hacettepe University Institute of Child Health 2020-02-01
Edice:	The Turkish Journal of Pediatrics
Témata:	TMPRSS6 hepcidin iron deficiency anemia matriptase-2
On-line přístup:	https://turkjpediatr.org/article/view/416
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!