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  • Title: [Myotonin protein kinase].
    Author: Ishiura S, Sasagawa N, Saitoh N, Koike H, Sorimachi H, Suzuki K, Shimokawa M, Usuki F, Nakase H, Kamakura K.
    Journal: Rinsho Shinkeigaku; 1995 Dec; 35(12):1482-3. PubMed ID: 8752437.
    Abstract:
    The mutation underlying myotonic dystrophy is the expansion of polymorphic CTG repeat in the 3'-noncoding region of the myotonin protein kinase (MtPK) gene mapping to chromosome 19q13.3. A full-length cDNA of human MtPK was cloned and expressed in COS-1 cells. MtPK is recovered from the COS cell extract as a 70 kDa protein, which coincides with the size deduced from the predicted amino acid sequence. Biochemical characteristics of MtPK expressed in COS cells and its expression are investigated.
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