PRF1 gene mutation in a Saudi patient with haemophagocytic lymphohistiocytosis.
Al Balwi
M A
MA
King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Saudi Arabia. balwim@ngha.med.sa
Al Harbi
T
T
Al Abdulkareem
I
I
Hajeer
A H
AH
D003241:Consanguinity; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*; D012529:Saudi Arabia
C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin