ArticleJournal of medical genetics1997
Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed.
- The CLN3 gene and protein: What we know.Molecular genetics & genomic medicine · 2019Review
- Clinical implementation of gene panel testing for lysosomal storage diseases.Molecular genetics & genomic medicine · 2019Article
- An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.European journal of human genetics : EJHG · 2014Article
- Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.The Journal of molecular diagnostics : JMD · 2004Article
Corrections and comments
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Authors and funding
3 authors.
Funding
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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Registered trials
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