STRATEGY FOR MUTATION DETECTION IN CLN3 - CHARACTERIZATION OF 2 FINNISH MUTATIONS

Authors
MUNROE PB ORAWE AM MITCHISON HM JARVELA IE SANTAVUORI P LERNER TJ TASCHNER PEM GARDINER RM MOLE SE
Citation
Pb. Munroe et al., STRATEGY FOR MUTATION DETECTION IN CLN3 - CHARACTERIZATION OF 2 FINNISH MUTATIONS, Neuropediatrics, 28(1), 1997, pp. 15-17
Citations number
2
Categorie Soggetti
Pediatrics,"Clinical Neurology
Journal title
Neuropediatrics → ACNP
ISSN journal
0174304X
Volume
28
Issue
1
Year of publication
1997
Pages
15 - 17
Database
ISI
SICI code
0174-304X(1997)28:1<15:SFMDIC>2.0.ZU;2-U
Abstract
A strategy for detection of mutations in CLN3, the gene for Batten dis ease or juvenile onset neuronal ceroid lipofuscinosis, has been devise d using a technique which detects conformation polymorphisms and direc t sequencing of genomic DNA fragments. We define two mutations found u niquely in Finnish patients, one a large deletion (2.8 Kb), the other a point mutation affecting the 5'splice donor site of an intron.