Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
Clementi
R
R
zur Stadt
U
U
Savoldi
G
G
Varoitto
S
S
Conter
V
V
De Fusco
C
C
Notarangelo
L D
LD
Schneider
M
M
Klersy
C
C
Janka
G
G
Danesino
C
C
Aricò
M
M
D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005869:Ghana; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D017434:Protein Structure, Tertiary; D016896:Treatment Outcome; D014421:Turkey
D018389:Codon, Nonsense; D018388:Codon, Terminator; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin