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Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene

✍ Scribed by S. Augustin; D. Llige; A. Andreu; A. González; J. Genescà

Book ID
108713529
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
211 KB
Volume
37
Category
Article
ISSN
0014-2972

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Familial amyloidosis in a large Spanish
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✍ S. Augustin; D. Llige; A. Andreu; A. González; J. Genescà 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 211 KB

## Abstract **Background** Transthyretin amyloidosis, also known as familial amyloidotic polyneuropathy, is an autosomal dominant disorder that results from a mutation in the gene encoding plasma transthyretin (TTR). Distinct clinical presentations of the disease have been related so far to differe

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