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Familial amyloidotic polyneuropathy: Description of an Italian kindred

✍ Scribed by G. Di Iorio; G. Sanges; A. Cerracchio; S. Sampaolo; V. Sannino; V. Bonavita

Publisher
Springer Milan
Year
1993
Tongue
English
Weight
740 KB
Volume
14
Category
Article
ISSN
1590-1874

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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 πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 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