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Familial cutaneous collagenomas resulting from a novel mutation in LEMD3

✍ Scribed by D. Hershkovitz; D.B. Amitai; E. Sprecher


Book ID
108669200
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
117 KB
Volume
156
Category
Article
ISSN
0007-0963

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Familial amyloidosis in a large Spanish
✍ 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