Biochem Biophys Res Commun. 1992 Jan 31;182(2):520-6.

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.

Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S.

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First Department of Internal Medicine, Kumamoto University Medical School, Japan.

Abstract

We characterized the mutation associated with familial amyloidotic polyneuropathy in a Japanese patient. Sequence analysis of polymerase chain reaction-amplified exons of the transthyretin gene revealed a novel point mutation resulting in a substitution of arginine for glycine at position 47. The mutation was confirmed using allele-specific olgonucleotide hybridization procedures. This most likely represents a de novo mutation since neither parent carries the mutant allele.

PMID:: 1734866; [PubMed - indexed for MEDLINE]

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A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.

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