title: Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.
authors.forename: Bradley N
authors.initials: BN
authors.lastname: Smith
authors.forename: Catherine
authors.initials: C
authors.lastname: Evans
authors.forename: Akbar
authors.initials: A
authors.lastname: Ali
authors.forename: Phil J
authors.initials: PJ
authors.lastname: Ancliff
authors.forename: Bu'hussain
authors.initials: B
authors.lastname: Hayee
authors.forename: Anthony W
authors.initials: AW
authors.lastname: Segal
authors.forename: Georgina
authors.initials: G
authors.lastname: Hall
authors.forename: Zuhre
authors.initials: Z
authors.lastname: Kaya
authors.forename: Abdul Rauf
authors.initials: AR
authors.lastname: Shakoori
authors.forename: David C
authors.initials: DC
authors.lastname: Linch
authors.forename: Rosemary E
authors.initials: RE
authors.lastname: Gale
mesh_terms: D000328:Adult; D002648:Child; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D018703:Founder Effect; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009503:Neutropenia / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D010641:Phenotype
chemical_list: D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human