title: Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E.
authors.affiliation: Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica (IRO), L'Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Fillat
authors.forename: T
authors.initials: T
authors.lastname: Español
authors.forename: M
authors.initials: M
authors.lastname: Oset
authors.forename: M
authors.initials: M
authors.lastname: Cavieres
authors.forename: P
authors.initials: P
authors.lastname: dal Borgo
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: V
authors.initials: V
authors.lastname: Volpini
mesh_terms: D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002677:Chile; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000150:complications / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein; D018698:Glutamic Acid; D014364:Tryptophan; D001120:Arginine; D000409:Alanine