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Article

Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.

Journal of the neurological sciences - 15 Sept 2009

Dardiotis Efthimios, Koutsou Pantelitsa, Zamba-Papanicolaou Eleni, Vonta Ilia, Hadjivassiliou Marilena, Hadjigeorgiou Georgios, Cariolou Marios, Christodoulou Kyproula, Kyriakides Theodoros

Abstract excerpt

BACKGROUND: Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin (TTR) gene. Amyloid, composed of mutated TTR, is deposited in the peripheral n...

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Source

Identifiers

PMID: 19493541
DOI: 10.1016/j.jns.2009.05.018

Genes

TTR
FAP
APCS
APOE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19493541-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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