TY - GEN AU - Oner,Ahmet Faik AU - Okur,Hamza AU - Balta,Gunay AU - Unal,Sule AU - Deger,Ibrahim AU - Akarsu,Nurten AU - Gurgey,Aytemiz TI - Disease causing nature of homozygous missense, p.A523D, alteration in the perforin gene SN - 1873-5835 PY - 2009///0715 KW - Child KW - Female KW - Homozygote KW - Humans KW - Mutation, Missense KW - Perforin KW - genetics N1 - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1016/j.leukres.2009.03.041 ER -