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Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene

✍ Scribed by Dekmezian, Mhair S.; Tschen, Jaime A.; Cho-Vega, Jeong Hee

Book ID
123381535
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
795 KB
Volume
68
Category
Article
ISSN
1097-6787

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## 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