Multiple inherited sequence variations in two disease-causing genes in familial haemophagocytic lymphohistiocytosis.
Rudd
Eva
E
Meeths
Marie
M
Uysal
Zümrüt
Z
Nordenskjöld
Magnus
M
Henter
Jan-Inge
JI
Fadeel
Bengt
B
D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D050765:Qa-SNARE Proteins / Q000235:genetics
D050765:Qa-SNARE Proteins; C541732:STX11 protein, human