title: Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.
authors.affiliation: S. Luigi Gonzaga Hospital, Medical Genetics Unit, University of Torino, Orbassano (TO), Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Robbiano
authors.forename: Giorgia
authors.initials: G
authors.lastname: Mandrile
authors.forename: Mario
authors.initials: M
authors.lastname: De Marchi
authors.forename: Bodo
authors.initials: B
authors.lastname: Beck
authors.forename: Anne
authors.initials: A
authors.lastname: Baasner
authors.forename: Luisa
authors.initials: L
authors.lastname: Murer
authors.forename: Elisa
authors.initials: E
authors.lastname: Benetti
authors.forename: Daniela
authors.initials: D
authors.lastname: Giachino
mesh_terms: D002675:Child, Preschool; D005091:Exons; D006801:Humans; D006959:Hyperoxaluria / Q000201:enzymology / Q000235:genetics; D006960:Hyperoxaluria, Primary; D007558:Italy; D008297:Male; D017384:Sequence Deletion; D000637:Transaminases / Q000172:deficiency / Q000235:genetics*
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase