TY  - GEN
AU  - Çakmaklı,Seda
AU  - Kaplan,Çiğdem
AU  - Uzunoğlu,Mehmet
AU  - Büyükbayram,Merve
AU  - Görgülü,Emel
AU  - Zarif,Nurten Özkan
AU  - Keskin,Ebru Yılmaz
TI  - A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings
SN  - 2791-6421
PY  - 2021///0819
KW  - Anemia, Hypochromic
KW  - Anemia, Iron-Deficiency
KW  - genetics
KW  - Child
KW  - Codon, Nonsense
KW  - Humans
KW  - Male
KW  - Membrane Proteins
KW  - Mutation
KW  - Serine Endopeptidases
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.24953/turkjped.2020.01.014
ER  -