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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 remark...

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Topics

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Share to Age of Onset
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Share to Amyloid Neuropathies, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to FAP gene

Share to Polymorphism, Single Nucleotide

Share to Receptors, Androgen

Share to Retinol-Binding Proteins, Plasma

Share to Serum Amyloid P-Component

Source

Open in PubMed Open full text

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 4 Sept 2026. Prepared record publication-26286643-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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