title: Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.
authors.forename: Miriam
authors.initials: M
authors.lastname: Entesarian
authors.forename: Samuel C C
authors.initials: SC
authors.lastname: Chiang
authors.forename: Heinrich
authors.initials: H
authors.lastname: Schlums
authors.forename: Marie
authors.initials: M
authors.lastname: Meeths
authors.forename: Mei-Yoke
authors.initials: MY
authors.lastname: Chan
authors.forename: Soe-Nwe
authors.initials: SN
authors.lastname: Mya
authors.forename: Shui-Yen
authors.initials: SY
authors.lastname: Soh
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
authors.forename: Yenan T
authors.initials: YT
authors.lastname: Bryceson
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D006801:Humans; D007438:Introns / Q000235:genetics*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; C507969:UNC13D protein, human
keywords: NK cells; T cells; UNC13D (Munc13-4); deep intronic mutation; familial haemophagocytic lymphohistiocytosis