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Article

A Swedish family with the rare Phe33Leu transthyretin mutation.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Sept 2005

Holmgren Gösta, Hellman Urban, Jonasson Jenni, Lundgren Hans-Eric, Westermark Per, Suhr Ole B

Abstract excerpt

Familial amyloidotic polyneuropathy (FAP) designates TTR mutations where the phenotype is dominated by a peripheral sensory-motor polyneuropathy. The most common mutation is ATTR Val30Met. FAP in association with ATTR Phe33Leu has been described previously in two American families, one of Polish-Lithuanian descent and the other of Polish-American. In this study, we report the phenotype of the ATTR Phe33Leu in a...

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Source

Identifiers

PMID: 16194875
DOI: 10.1080/13506120500221989

Genes

FAP
TTR

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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