| Literature DB >> 11019863 |
E B Haagsma1, H Scheffer, K Altland, A E De Jager, B P Hazenberg.
Abstract
A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation Val71Ala is described. This is the third reported family with this mutation, causing at the protein level an unstable TTR monomer and at the clinical level progressive wasting, polyneuropathy, autonomic dysfunction and vitreous opacities.Entities:
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Year: 2000 PMID： 11019863 DOI： 10.3109/13506120009146837
Source DB: PubMed Journal: Amyloid ISSN： 1350-6129 Impact factor: 7.141