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Article

Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.

Human genetics - 1 Nov 1990

Skare J, Yazici H, Erken E, Dede H, Cohen A, Milunsky A, Skinner M

Abstract excerpt

A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for the met30 mutation have developed symptoms.

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PMID: 2174830
DOI: 10.1007/BF00205182

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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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