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Article

Familial amyloidotic polyneuropathy (ATTR Ser50Ile): the first autopsy case report.

Virchows Archiv : an international journal of pathology - 1 Apr 2000

Sakashita N, Ando Y, Obayashi K, Terazaki H, Yamashita T, Takei M, Kinjo M, Takahashi K

Abstract excerpt

We report an autopsy case of a pedigree of familial amyloidotic polyneuropathy (FAP) with a mutation of isoleucine-50 transthyretin (ATTR Ser50Ile). A 47-year-old man started developing severe diarrhea and weight loss at age 41 years, followed by urinary incontinence, autonomic-nervous-system abn...

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Source

Identifiers

PMID: 10834537
DOI: 10.1007/s004280050457

Genes

FAP
TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10834537-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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