PT  - JOURNAL ARTICLE
AU  - Taschner, P E
AU  - de Vos, N
AU  - Breuning, M H
TI  - Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.
AID  - 10.1136/jmg.34.11.955
DP  - 1997 Nov 01
TA  - Journal of Medical Genetics
PG  - 955--956
VI  - 34
IP  - 11
4099  - http://jmg.bmj.com/content/34/11/955.short
4100  - http://jmg.bmj.com/content/34/11/955.full
SO  - J Med Genet1997 Nov 01; 34
AB  - The recent isolation of the CLN3 gene involved in Batten disease (juvenile neuronal ceroid lipofuscinosis) creates possibilities for direct detection of mutations which can confirm or indicate the clinical diagnosis of Batten disease. We have designed a rapid and reliable allele specific PCR test for the detection of the major deletion, which can be used in carrier diagnosis, presymptomatic diagnosis, and prenatal diagnosis.