title: Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202.
authors.forename: A
authors.initials: A
authors.lastname: Sahota
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: Bye
authors.forename: J
authors.initials: J
authors.lastname: Jaing
authors.forename: M
authors.initials: M
authors.lastname: Berenyi
authors.forename: G
authors.initials: G
authors.lastname: Fekete
authors.forename: J A
authors.initials: JA
authors.lastname: Tischfield
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion
chemical_list: D003062:Codon; D000228:Adenine Phosphoribosyltransferase; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases