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.
Ariga
T
T
Yamada
M
M
Sakiyama
Y
Y
Tatsuzawa
O
O
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
D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein