title: Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
authors.forename: Wendy
authors.initials: W
authors.lastname: Westbroek
authors.forename: David
authors.initials: D
authors.lastname: Adams
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.forename: Amy
authors.initials: A
authors.lastname: Koshoffer
authors.forename: Heidi
authors.initials: H
authors.lastname: Dorward
authors.forename: Bradford
authors.initials: B
authors.lastname: Tinloy
authors.forename: Jennifer
authors.initials: J
authors.lastname: Parkes
authors.forename: Amanda
authors.initials: A
authors.lastname: Helip-Wooley
authors.forename: Robert
authors.initials: R
authors.lastname: Kleta
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Tsilou
authors.forename: Patrice
authors.initials: P
authors.lastname: Duvernay
authors.forename: Kathleen B
authors.initials: KB
authors.lastname: Digre
authors.forename: Donnell J
authors.initials: DJ
authors.lastname: Creel
authors.forename: James G
authors.initials: JG
authors.lastname: White
authors.forename: Raymond E
authors.initials: RE
authors.lastname: Boissy
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D000328:Adult; D017668:Age of Onset; D001792:Blood Platelets / Q000473:pathology; D002609:Chediak-Higashi Syndrome / Q000235:genetics* / Q000473:pathology*; D005347:Fibroblasts / Q000473:pathology; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009504:Neutrophils / Q000473:pathology; D010641:Phenotype; D033921:Vesicular Transport Proteins / Q000235:genetics
chemical_list: C102161:LYST protein, human; D033921:Vesicular Transport Proteins