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  • Title: Familial amyloid polyneuropathy in Korea: the first case report with a proven ATTR Lys35Asn gene.
    Author: Ryu JK, Baik HW, Bae JS, Hwang TJ, Paik SY, Yu HJ, Choi BO, Takei Y, Ikeda S.
    Journal: Amyloid; 2005 Mar; 12(1):62-4. PubMed ID: 16076613.
    Abstract:
    A 39-year-old man with progressive peripheral neuropathy and autonomic failure showed amyloid deposition on sural nerve biopsy. Direct DNA sequencing of the TTR gene revealed a G to T mutation, causing a Lys to Asn substitution at position 35. This is the first FAP case in Korea which was diagnosed by a DNA test.
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