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