title: A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL.
authors.forename: E
authors.initials: E
authors.lastname: Schaeffeler
authors.forename: M
authors.initials: M
authors.lastname: Stanulla
authors.forename: J
authors.initials: J
authors.lastname: Greil
authors.forename: M
authors.initials: M
authors.lastname: Schrappe
authors.forename: M
authors.initials: M
authors.lastname: Eichelbaum
authors.forename: U M
authors.initials: UM
authors.lastname: Zanger
authors.forename: M
authors.initials: M
authors.lastname: Schwab
mesh_terms: D002675:Child, Preschool; D005192:Family Health; D006801:Humans; D008297:Male; D015122:Mercaptopurine / Q000378:metabolism / Q000627:therapeutic use; D008780:Methyltransferases / Q000172:deficiency / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics
chemical_list: D015122:Mercaptopurine; D008780:Methyltransferases; C022745:thiopurine methyltransferase