Strategy for mutation detection in CLN3: Characterisation of two Finnish mutations

Neuropediatrics

Volumn 28, Issue 1, 1997, Pages 15-17

  Munroe, Patricia B ^a   O'Rawe, Angela M ^a   Mitchison, Hannah M ^a   Järvelä, Irma E ^b   Santavuori, Pirkko ^c   Lerner, Terry J ^d   Taschner, P E M ^e   Gardiner, R M ^a   Mole, Sara E ^a  

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

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e LEIDEN UNIVERSITY   (Netherlands)

Author keywords

CLN3 gene; Finnish; Mutation; NCL

Indexed keywords

DNA FRAGMENT;

ARTICLE; CASE REPORT; DNA SEQUENCE; FINLAND; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; NEURONAL CEROID LIPOFUSCINOSIS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0030871322     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973657     Document Type: Article

References (2)

1. Mitchison, H. M., P. B. Munroe, A. M. O'Rawe, P. E. M. Taschner, N. de Vos, G. Kremmidiotis, I. Lensink, C. A. Munk, K. L. D'Arigo, T. J. Lerner, R. K. Moyzis, D. F. Callen, M. H. Breuning, N. A. Doggett, R. M. Gardiner, S. E. Mole: Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics (1997) in press
2. The International Batten Disease Consortium: Isolation of a novel gene underlying Batten disease (CLN3). Cell 82 (1995) 949-957