title: Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1.
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
authors.forename: Nirmala D
authors.initials: ND
authors.lastname: Sirisena
authors.affiliation: Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka.
authors.forename: Nethra Hidellage
authors.initials: NH
authors.lastname: Tantrigoda
authors.affiliation: Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka.
authors.forename: Kariyawasam Jayani C
authors.initials: KJ
authors.lastname: Kariyawasam
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
authors.forename: Rohan W
authors.initials: RW
authors.lastname: Jayasekara
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.|Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka.
authors.forename: Vajira H W
authors.initials: VH
authors.lastname: Dissanayake
mesh_terms: D000328:Adult; D003241:Consanguinity; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000601:surgery; D016030:Kidney Transplantation; D016031:Liver Transplantation; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D013188:Sri Lanka; D000637:Transaminases / Q000235:genetics*
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase