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

doi:10.1007/BF00205182

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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...

Topics

Amyloidosis
Base Sequence
DNA
Exons
Female
Homozygote
Humans
Male
Methionine
Molecular Sequence Data
Mutation
Pedigree
Peripheral Nervous System Diseases
Polymerase Chain Reaction
Prealbumin
Turkey

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