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Article

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2014

Lemos Carolina, Coelho Teresa, Alves-Ferreira Miguel, Martins-da-Silva Ana, Sequeiros Jorge, Mendonça Denisa, Sousa Alda

Abstract excerpt

BACKGROUND: Early-onset (≤40 years) and later-onset (≥50 years) cases of familial amyloid polyneuropathy (FAP) ATTRV30M are not different entities, often coexisting in the same family, and showing anticipation (earlier age-at-onset (AO) in younger generations, usually associated with more severe phenotype). Historically, anticipation has been ascribed to ascertainment biases. Our aim was to study anticipation in...

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Identifiers

PMID: 24046394
DOI: 10.1136/jnnp-2013-305383

Genes

FAP

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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