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Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.
Gene amplification using polymerase chain reaction (PCR) was carried out on DNA samples from a total of 92 normal subjects and 52 subjects with myotonic dystrophy (DM) from European and JapaneseExpand
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Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
PAX6 is essential for ocular morphogenesis. Mutations in the PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, foveal hypoplasia, autosomal dominant keratitis and congenitalExpand
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Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.
BACKGROUND Myotonic dystrophy is the most common inherited form of muscular dystrophy affecting adults. Its symptoms are not confined to muscle, and variability in their nature and in the patient'sExpand
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Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.
Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat in a sequence encoding a cAMP-dependent protein kinase. The normal copy number of 5-35 repeatsExpand
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Detection of a premutation in Japanese myotonic dystrophy.
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CypHer 5: a generic approach for measuring the activation and trafficking of G protein-coupled receptors in live cells.
GPCRs are one of the most popular classes of therapeutic drug targets. It is therefore important to design specific assay formats to readily identify ligands at these receptors. CypHer 5 technologyExpand
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