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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Nov;34(11):955–956. doi: 10.1136/jmg.34.11.955

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

P E Taschner 1, N de Vos 1, M H Breuning 1
PMCID: PMC1051131  PMID: 9391897

Abstract

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.

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Selected References

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