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Article

Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy.

Human genetics - 1 Jul 2017

Federico Concetta, Dugo Ketty, Bruno Francesca, Longo Anna Maria, Grillo Agata, Saccone Salvatore

Abstract excerpt

Familial amyloidotic polyneuropathy (FAP) is a progressive neuropathy, with onset in adulthood and high mortality. It is related to an altered transthyretin (TTR) plasma protein, mainly produced by the liver and responsible for amyloid deposit in the peripheral nervous system. SNPs in the TTR gene were associated with FAP, and the G>C substitution (NM_000371.3:c.325G>C) in the 109th codon (GAG vs CAG;...

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Source

Identifiers

PMID: 28508289
DOI: 10.1007/s00439-017-1810-y

Genes

FAP
TTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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