Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy
- 1 November 1990
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 86 (1), 89-90
- https://doi.org/10.1007/bf00205182
Abstract
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.Keywords
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