title: A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.
authors.forename: Udo
authors.initials: U
authors.lastname: Zur Stadt
authors.forename: Karin
authors.initials: K
authors.lastname: Beutel
authors.forename: Belinda
authors.initials: B
authors.lastname: Weber
authors.forename: Hartmut
authors.initials: H
authors.lastname: Kabisch
authors.forename: Reinhard
authors.initials: R
authors.lastname: Schneppenheim
authors.forename: Gritta
authors.initials: G
authors.lastname: Janka
mesh_terms: 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
chemical_list: D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin; D014633:Valine; D000409:Alanine