Human Genetics
Volume 86, Number 1, 89-90, DOI: 10.1007/BF00205182

Short Communications

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

James Skare, Hasan Yazici, Eren Erken, Hulya Dede, Alan Cohen, Aubrey Milunsky and Martha Skinner

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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.

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