title: A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes.
authors.forename: T
authors.initials: T
authors.lastname: Ariga
authors.forename: M
authors.initials: M
authors.lastname: Yamada
authors.forename: Y
authors.initials: Y
authors.lastname: Sakiyama
authors.forename: O
authors.initials: O
authors.lastname: Tatsuzawa
mesh_terms: D000595:Amino Acid Sequence; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*; D017421:Sequence Analysis; D017384:Sequence Deletion; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein