| 000 | 01350 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250518094229.0 | ||
| 264 | 0 | _c20210819 | |
| 008 | 202108s 0 0 eng d | ||
| 022 | _a2791-6421 | ||
| 024 | 7 |
_a10.24953/turkjped.2020.01.014 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aÇakmaklı, Seda | |
| 245 | 0 | 0 |
_aA novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings. _h[electronic resource] |
| 260 |
_bThe Turkish journal of pediatrics _c2020 |
||
| 300 |
_a103-108 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAnemia, Hypochromic |
| 650 | 0 | 4 |
_aAnemia, Iron-Deficiency _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aSerine Endopeptidases _xgenetics |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aKaplan, Çiğdem | |
| 700 | 1 | _aUzunoğlu, Mehmet | |
| 700 | 1 | _aBüyükbayram, Merve | |
| 700 | 1 | _aGörgülü, Emel | |
| 700 | 1 | _aZarif, Nurten Özkan | |
| 700 | 1 | _aKeskin, Ebru Yılmaz | |
| 773 | 0 |
_tThe Turkish journal of pediatrics _gvol. 62 _gno. 1 _gp. 103-108 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.24953/turkjped.2020.01.014 _zAvailable from publisher's website |
| 999 |
_c30821350 _d30821350 |
||