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Familial amyloid polyneuropathy in Korea: The first case report with a proven ATTR Lys35Asn gene

Title
Familial amyloid polyneuropathy in Korea: The first case report with a proven ATTR Lys35Asn gene
Authors
Ryu J.K.Baik H.W.Bae J.S.Hwang T.J.Paik S.Y.Yu H.J.Choi B.O.Takei Y.-I.Ikeda S.-I.
Ewha Authors
최병옥
Issue Date
2005
Journal Title
Amyloid
ISSN
1350-6129JCR Link
Citation
Amyloid vol. 12, no. 1, pp. 62 - 64
Indexed
SCI; SCIE; SCOPUS WOS scopus
Document Type
Article
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. © 2005 Taylor & Francis Group Ltd.
DOI
10.1080/13506120500032790
Appears in Collections:
의과대학 > 의학과 > Journal papers
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