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. 1995 Apr;32(4):279–281. doi: 10.1136/jmg.32.4.279

A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.

T Uemichi 1, M A Gertz 1, M D Benson 1
PMCID: PMC1050375  PMID: 7643356

Abstract

An American kindred with systemic amyloidosis presenting with carpal tunnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequencing and both cytosine and thymine were present at the first base of codon 24. This new point mutation in exon 2 results in the amino acid substitution of serine for proline in the A-B loop of the transthyretin molecule. DNA testing for this mutant allele by restriction fragment length polymorphism analysis based on the polymerase chain reaction is described.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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