title: Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.
abstract: A strategy for detection of mutations in CLN3, the gene for Batten disease or juvenile onset neuronal ceroid lipofuscinosis, has been devised using a technique which detects conformation polymorphisms and direct sequencing of genomic DNA fragments. We define two mutations found uniquely in Finnish patients, one a large deletion (2.8 kb), the other a point mutation affecting the 5'splice donor site of an intron.
authors.affiliation: Department of Paediatrics, University College London Medical School, Rayne Institute, UK.
authors.forename: P B
authors.initials: PB
authors.lastname: Munroe
authors.forename: A M
authors.initials: AM
authors.lastname: O'Rawe
authors.forename: H M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: I E
authors.initials: IE
authors.lastname: Järvelä
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: T J
authors.initials: TJ
authors.lastname: Lerner
authors.forename: P E
authors.initials: PE
authors.lastname: Taschner
authors.forename: R M
authors.initials: RM
authors.lastname: Gardiner
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D016213:Cyclins; D004252:DNA Mutational Analysis; D005387:Finland; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007438:Introns; D008562:Membrane Glycoproteins / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics*; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D029701:Saccharomyces cerevisiae Proteins
chemical_list: C079895:CLN3 protein, S cerevisiae; C105199:CLN3 protein, human; D016213:Cyclins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D029701:Saccharomyces cerevisiae Proteins