000 | 01301 a2200373 4500 | ||
---|---|---|---|
005 | 20250515135422.0 | ||
264 | 0 | _c20081014 | |
008 | 200810s 0 0 eng d | ||
022 | _a1536-3678 | ||
024 | 7 |
_a10.1097/MPH.0b013e31817580fd _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aAl-Jasmi, Fatma | |
245 | 0 | 0 |
_aNovel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis. _h[electronic resource] |
260 |
_bJournal of pediatric hematology/oncology _cAug 2008 |
||
300 |
_a621-4 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aCodon, Nonsense |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 |
_aLymphohistiocytosis, Hemophagocytic _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMothers |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aPerforin _xgenetics |
650 | 0 | 4 |
_aUniparental Disomy _xgenetics |
700 | 1 | _aAbdelhaleem, Mohamed | |
700 | 1 | _aStockley, Tracy | |
700 | 1 | _aLee, Kyong-Soon | |
700 | 1 | _aClarke, Joe T R | |
773 | 0 |
_tJournal of pediatric hematology/oncology _gvol. 30 _gno. 8 _gp. 621-4 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1097/MPH.0b013e31817580fd _zAvailable from publisher's website |
999 |
_c18267923 _d18267923 |