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