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Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues

โœ Scribed by Yukari Date; Masamitsu Nakazato; Kenji Kangawa; Katsutoshi Shirieda; Toshiro Fujimoto; Shigeru Matsukura


Book ID
119468617
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
577 KB
Volume
150
Category
Article
ISSN
0022-510X

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Severe familial amyloid cardiomyopathy (FAC) in a Danish kindred is associated with a specific mutation (Met for Leu 111) in the transthyretin (TTR) gene. The mutation causes the loss of a DdeI restriction site in the gene, allowing molecular diagnostic studies. We studied formalin-fixed, paraffin-e