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Transthyretin amyloidosis: A new mutation associated with dementia

โœ Scribed by Dr. R. B. Petersen; H. Goren; M. Cohen; S. L. Richardson; N. Tresser; A. Lynn; M. Gali; M. Estes; Dr P. Gambetti


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
812 KB
Volume
41
Category
Article
ISSN
0364-5134

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We report on the genetic and molecular characterisation of an Italian family with a late-onset, autosomal dominant transthyretin amyloidosis. The transthyretin gene was analysed by polymerase chain reaction (PCR), restriction generating PCR, and sequencing, allowing us to discover in one allele a no