Article
Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.
Human molecular genetics - 15 Feb 2005
Soares Miguel L, Coelho Teresa, Sousa Alda, Batalov Serge, Conceição Isabel, Sales-Luís Maria L, Ritchie Marylyn D, Williams Scott M, Nievergelt Caroline M, Schork Nicholas J, Saraiva Maria João, Buxbaum Joel N
Abstract excerpt
Familial amyloid polyneuropathy type I is an autosomal dominant disorder caused by mutations in the transthyretin (TTR) gene; however, carriers of the same mutation exhibit variability in penetrance and clinical expression. We analyzed alleles of candidate genes encoding non-fibrillar components of TTR amyloid deposits and a molecule metabolically interacting with TTR [retinol-binding protein (RBP)], for possible...
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