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Article

An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene.

European journal of neurology - 1 Aug 2005

Kim H S, Kim S-M, Kang S-W, Jung S-C, Lee K-S, Kim T-S, Choi Y-C

Abstract excerpt

We report a patient with familial amyloid polyneuropathy. Gene analysis revealed a heterozygous Glu54Gly substitution (A-to-G change) in the transthyretin gene. This is the first case of a Glu54Gly substitution that was devoid of a Gly6Ser substitution. Compared with the previously reported case with compound heterozygotes of Glu54Gly and Gly6Ser, the age of onset in our case is much younger and another...

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Identifiers

PMID: 16053476
DOI: 10.1111/j.1468-1331.2005.01005.x

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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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