Article
A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.
Molecular neurobiology - 1 May 2018
Alves-Ferreira Miguel, Coelho Teresa, Santos Diana, Sequeiros Jorge, Alonso Isabel, Sousa Alda, Lemos Carolina
Abstract excerpt
Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset...
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