Oner, Ahmet Faik Disease causing nature of homozygous missense, p.A523D, alteration in the perforin gene. [electronic resource] - Leukemia research Sep 2009 - e152-3 p. digital Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't ISSN: 1873-5835 Standard No.: 10.1016/j.leukres.2009.03.041 doi Subjects--Topical Terms: ChildFemaleHomozygoteHumansMutation, MissensePerforin--genetics