title: Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.
authors.affiliation: Division of Cell and Molecular Biology, Institute of Child Health, London, United Kingdom.
authors.forename: C D
authors.initials: CD
authors.lastname: Porter
authors.forename: M H
authors.initials: MH
authors.lastname: Parkar
authors.forename: C
authors.initials: C
authors.lastname: Kinnon
mesh_terms: D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D009252:NADPH Dehydrogenase / Q000235:genetics*; D019255:NADPH Oxidases; D010750:Phosphoproteins / Q000235:genetics*; D012326:RNA Splicing
chemical_list: D017931:DNA Primers; D026901:Membrane Transport Proteins; D010750:Phosphoproteins; D019255:NADPH Oxidases; C086986:CYBA protein, human; D009252:NADPH Dehydrogenase