Rapid diagnostic test for the major mutation underlying Batten disease

Journal of Medical Genetics

Volumn 33, Issue 12, 1996, Pages 1041-1042

  Järvelä, Irma ^a   Mitchison, Hannah M ^b   Munroe, Patricia B ^b   O'Rawe, Angela M ^b   Mole, Sara E ^b   Syvänen, Ann Christine ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Batten disease; Diagnostic test; Mutation

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; CHROMOSOME; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA SEQUENCE; FINLAND; GENE DELETION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NERVE DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL;

EID: 0030454016     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.12.1041     Document Type: Article

References (7)

1. Santavuori P. Neuronal ceroid lipofuscinoses in childhood. Brain Dev 1988;10:80-3.
2. Gardiner RM, Sandford A, Deadman M, et al. Batten disease (Spielmeyer-Vogt; juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16. Genomics 1990;8:387-90.
3. The International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82:949-57.
4. Syvänen A-C, Ikonen E, Manninen T, et al. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing application to aspartylglucosaminuria in Finland. Genomics 1992;12:590-5.
5. Mitchison HM, O'Rawe AM, Taschner PEM, et al. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population and analysis of European haplotypes. Am J Hum Genet 1995;56:654-62.
6. Munroe PB, Rapola J, Mitchison HM, et al. Prenatal diagnosis of Batten disease. Lancet 1996;347:1014-15.
7. Walsh PC, Ehrlich HA, Higuchi R. Preferential PCR amplification of alleles: mechanisms and solutions. PCR Methods and Applications 1992;1:241-50.