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Verification of the transthyretin met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequening

✍ Scribed by Bjørn-Yngvar Nordvåg; Hilde Monica Frostad Riise; Gunnar Husby


Book ID
104661253
Publisher
Springer
Year
1994
Tongue
English
Weight
317 KB
Volume
93
Category
Article
ISSN
0340-6717

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✍ Bjørn-Yngvar Nordvåg; Ida Ranløv; Hilde Monica Frostad Riise; Gunnar Husby; M. R 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 497 KB

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