title: Disease causing nature of homozygous missense, p.A523D, alteration in the perforin gene.
authors.forename: Ahmet Faik
authors.initials: AF
authors.lastname: Oner
authors.forename: Hamza
authors.initials: H
authors.lastname: Okur
authors.forename: Gunay
authors.initials: G
authors.lastname: Balta
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Deger
authors.forename: Nurten
authors.initials: N
authors.lastname: Akarsu
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
mesh_terms: D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D054353:Perforin / Q000235:genetics*
chemical_list: D054353:Perforin