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

Çakmaklı, Seda

A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings. [electronic resource] - The Turkish journal of pediatrics 2020 - 103-108 p. digital

Publication Type: Case Reports; Journal Article

2791-6421

10.24953/turkjped.2020.01.014 doi


Anemia, Hypochromic
Anemia, Iron-Deficiency--genetics
Child
Codon, Nonsense
Humans
Male
Membrane Proteins--genetics
Mutation
Serine Endopeptidases--genetics
Siblings