title: Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.
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: Professorial Paediatric Unit, Teaching Hospital Peradeniya, Peradeniya, Sri Lanka.
authors.forename: Shenal
authors.initials: S
authors.lastname: Thalgahagoda
authors.affiliation: Professorial Paediatric Unit, Teaching Hospital Peradeniya, Peradeniya, Sri Lanka.
authors.forename: Asiri
authors.initials: A
authors.lastname: Abeyagunawardena
authors.affiliation: Laboratory MVZ West Mecklenburg, Schmudlach-Oswald-Kettermann & Kollegen, Schwerin, MV, Germany.
authors.forename: Manuela
authors.initials: M
authors.lastname: Neumann
authors.affiliation: Laboratory MVZ West Mecklenburg, Schmudlach-Oswald-Kettermann & Kollegen, Schwerin, MV, Germany.
authors.forename: Hans-Otto
authors.initials: HO
authors.lastname: Schmudlach
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.
authors.forename: Vajira H W
authors.initials: VH
authors.lastname: Dissanayake
mesh_terms: D000293:Adolescent; D001324:Autoantigens / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D024141:Collagen Type IV / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D001324:Autoantigens; D024141:Collagen Type IV; D005819:Genetic Markers; C057112:type IV collagen alpha3 chain