title: Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Badolato
authors.forename: Alberto
authors.initials: A
authors.lastname: Prandini
authors.forename: Sonia
authors.initials: S
authors.lastname: Caracciolo
authors.forename: Francesca
authors.initials: F
authors.lastname: Colombo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Tabellini
authors.forename: Mauro
authors.initials: M
authors.lastname: Giacomelli
authors.forename: Maria E
authors.initials: ME
authors.lastname: Cantarini
authors.forename: Andrea
authors.initials: A
authors.lastname: Pession
authors.forename: Callum J
authors.initials: CJ
authors.lastname: Bell
authors.forename: Darrell L
authors.initials: DL
authors.lastname: Dinwiddie
authors.forename: Neil A
authors.initials: NA
authors.lastname: Miller
authors.forename: Shannon L
authors.initials: SL
authors.lastname: Hateley
authors.forename: Carol J
authors.initials: CJ
authors.lastname: Saunders
authors.forename: Lu
authors.initials: L
authors.lastname: Zhang
authors.forename: Gary P
authors.initials: GP
authors.lastname: Schroth
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
authors.forename: Silvia
authors.initials: S
authors.lastname: Parolini
authors.forename: Stephen F
authors.initials: SF
authors.lastname: Kingsmore
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics*; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D007694:Killer Cells, Natural / Q000276:immunology / Q000378:metabolism / Q000502:physiology; D037102:Lectins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C400284:BLOC1S6 protein, human; D002352:Carrier Proteins; D018389:Codon, Nonsense; D037102:Lectins