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    Biochem Biophys Res Commun. 1992 Aug 31;187(1):397-403.

    A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.

    Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita S, Kumamoto T, Araki S, Ando M.

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    First Department of Internal Medicine, Kumamoto University School of Medicine, Japan.

    Abstract

    A novel transthyretin (TTR) mutation associated with familial amyloidotic polyneuropathy was detected in a Japanese patient. Single-strand conformation polymorphism analysis and sequence analysis of polymerase chain reaction (PCR)-amplified exons of the patient's TTR gene revealed a point mutation resulting in a substitution of leucine for valine at position 30. As the mutation creates a Cfr13I site, it was confirmed by PCR and restriction analysis. Our finding indicates the importance of position 30 in TTR-derived amyloid fibril formation.

    PMID:
    1520326
    [PubMed - indexed for MEDLINE]

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