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.
Pirulli
D
D
Servizio di Genetica Medica, IRCCS Burlo Garofolo, 34137 Trieste, Italy.
Boniotto
M
M
Puzzer
D
D
Spanò
A
A
Amoroso
A
A
Crovella
S
S
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*
D000637:Transaminases; C019635:Alanine-glyoxylate transaminase