title: Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.
authors.affiliation: Department of Immunology/Microbiology, Rush Medical School, Chicago, IL 60612, USA.
authors.forename: S P
authors.initials: SP
authors.lastname: Kwan
authors.forename: T L
authors.initials: TL
authors.lastname: Hagemann
authors.forename: R M
authors.initials: RM
authors.lastname: Blaese
authors.forename: A
authors.initials: A
authors.lastname: Knutsen
authors.forename: F S
authors.initials: FS
authors.lastname: Rosen
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D003062:Codon / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D007438:Introns; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins; D017384:Sequence Deletion; D013921:Thrombocytopenia / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein; D014960:X Chromosome
chemical_list: D003062:Codon; D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein; D001120:Arginine