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

Pub. Date : 2020

PMID : 32253873






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 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. Iron transmembrane serine protease 6 Homo sapiens
2 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. Iron transmembrane serine protease 6 Homo sapiens