title: Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria.
authors.affiliation: Servizio di Genetica Medica, IRCCS Burlo Garofolo, 34137 Trieste, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pirulli
authors.forename: M
authors.initials: M
authors.lastname: Boniotto
authors.forename: D
authors.initials: D
authors.lastname: Puzzer
authors.forename: A
authors.initials: A
authors.lastname: Spanò
authors.forename: A
authors.initials: A
authors.lastname: Amoroso
authors.forename: S
authors.initials: S
authors.lastname: Crovella
mesh_terms: D006801:Humans; D006960:Hyperoxaluria, Primary / Q000201:enzymology / Q000235:genetics*; D016254:Mutagenesis, Insertional; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D000637:Transaminases / Q000235:genetics*
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase