Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR

Journal of Medical Genetics

Volumn 34, Issue 11, 1997, Pages 955-956

  Taschner, Peter E M ^a   De Vos, Nanneke ^a   Breuning, Martijn H ^a,b  

^a LEIDEN UNIVERSITY   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Barren disease; CLN3; NCL; Neuronal ceroid lipofuscinosis

Indexed keywords

ALLELE; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; GENE DELETION; GENE ISOLATION; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; NEURONAL CEROID LIPOFUSCINOSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0030779164     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.11.955     Document Type: Article

References (6)

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2. The International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82: 949-57.
3. Taschner PEM, de Vos N, Post JG, et al. Carrier detection of Batten disease (juvenile neuronal ceroid lipofuscinosis). Am J Med Genet 1995;57:333-7.
4. Munroe PB, Rapola J, Mitchison HM, et al. Prenatal diagnosis of Batten's disease. Lancet 1996;347:1014-15.
5. Järvel̈ I, Mitchison HM, Munroe PB, et al. Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet 1996;33:1041-2.
6. Mitchison HM, Munroe PB, O'Rawe AM, et al. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 1997;40:346-50.