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Article

Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.

Neurology - 1 Jun 1991

Ii S, Minnerath S, Ii K, Dyck P J, Sommer S S

Abstract excerpt

We analyzed 11 consecutive unrelated cases of polyneuropathy due to transthyretin amyloidosis. Direct sequencing of the promoter region, exons, and splice junctions revealed that each patient was heterozygous for a mutation: six patients had valine 30 substituted by methionine (V30----M; Portuguese-Japanese type), one had threonine 60 substituted by alanine (T60----A; Appalachian type), and two had serine 77...

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Identifiers

PMID: 2046936
DOI: 10.1212/wnl.41.6.893

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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