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Article

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).

European journal of human genetics : EJHG - 1 May 2016

Santos Diana, Coelho Teresa, Alves-Ferreira Miguel, Sequeiros Jorge, Mendonça Denisa, Alonso Isabel, Lemos Carolina, Sousa Alda

Abstract excerpt

Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest. FAP ATTRV30M shows a wide variation in age at onset (AO) between clusters, families and generations. Portuguese patients also show remarkable AO differences between genders. Genes found to be associated with FAP ATTRV30M pathways may act as AO modifiers....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Amyloid Neuropathies, Familial

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Share to Polymorphism, Single Nucleotide

Share to Receptors, Androgen

Share to Retinol-Binding Proteins, Plasma

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Source

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Identifiers

PMID: 26286643
DOI: 10.1038/ejhg.2015.180
PMCID: PMC4930087

Genes

RBP4
APCS
FAP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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