A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.
Zur Stadt
Udo
U
Beutel
Karin
K
Weber
Belinda
B
Kabisch
Hartmut
H
Schneppenheim
Reinhard
R
Janka
Gritta
G
D000409:Alanine / Q000235:genetics; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D054353:Perforin; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D052899:Pore Forming Cytotoxic Proteins; D014633:Valine / Q000235:genetics
D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin; D014633:Valine; D000409:Alanine