| 000 | 01288 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250516142345.0 | ||
| 264 | 0 | _c20130520 | |
| 008 | 201305s 0 0 eng d | ||
| 022 | _a1098-4275 | ||
| 024 | 7 |
_a10.1542/peds.2012-2255 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMelki, Isabelle | |
| 245 | 0 | 0 |
_aMutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. _h[electronic resource] |
| 260 |
_bPediatrics _cApr 2013 |
||
| 300 |
_ae1308-13 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aGenetic Markers |
| 650 | 0 | 4 |
_aHereditary Autoinflammatory Diseases _xcomplications |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperpigmentation _xetiology |
| 650 | 0 | 4 |
_aHypertrichosis _xetiology |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNucleoside Transport Proteins _xgenetics |
| 700 | 1 | _aLambot, Karen | |
| 700 | 1 | _aJonard, Laurence | |
| 700 | 1 | _aCouloigner, Vincent | |
| 700 | 1 | _aQuartier, Pierre | |
| 700 | 1 | _aNeven, Bénédicte | |
| 700 | 1 | _aBader-Meunier, Brigitte | |
| 773 | 0 |
_tPediatrics _gvol. 131 _gno. 4 _gp. e1308-13 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1542/peds.2012-2255 _zAvailable from publisher's website |
| 999 |
_c22615872 _d22615872 |
||