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Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin

✍ Scribed by Maria João Mascarenhas Saraiva; Pedro P. Costa; Maria do Rosário Almeida; Angelika Banzhoff; Klaus Altland; Alessandra Ferlini; Guido Rubboli; Rosaria Plasmati; Carlo A. Tassinari; Giovanni Romeo; Fabrizio Salvi

Publisher
Springer
Year
1988
Tongue
English
Weight
311 KB
Volume
80
Category
Article
ISSN
0340-6717

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Transthyretin Pro 36 associated with fam
Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred
✍ Daniel R. Jacobson; C. Julian Rosenthal; Joel N. Buxbaum 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 429 KB

Mutations in the serum protein transthyretin (TTR) cause amyloidosis involving the peripheral nerves, heart, and other organs. In Ashkenazic Jews, the only TTR variant described to date has been TTR Ile 33. We have studied DNA from another Ashkenazic Jewish kindred with familial amyloidotic polyneur