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Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred

✍ Scribed by Daniel R. Jacobson; C. Julian Rosenthal; Joel N. Buxbaum

Publisher: Springer
Year: 1992
Tongue: English
Weight: 429 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00210764

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✦ Synopsis

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 polyneuropathy. Single-strand conformation polymorphism analysis, DNA sequencing, and restriction analysis indicated that this kindred has the TTR Pro 36 variant, previously described only in a Greek kindred.

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