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A new mutation causing familial amyloidotic polyneuropathy.

J C Skare·M J Saraiva·I L Alves·I B Skare·A Milunsky·A S Cohen·M Skinner
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Abstract

The DNA from an individual with familial amyloidotic polyneuropathy was examined. It did not possess any of the mutations which have previously been associated with familial amyloidotic polyneuropathy. However, a novel 7.0 kb Sph I restriction fragment was discovered, and the mutation creating it was localized to exon 3 of the transthyretin gene. This mutation was inherited from a parent, and may result in an amino acid substitution for glu89, his90 or ala91. The patient's transthyretin has a lower pI than normal transthyretin.

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Amino Acid SequenceAmyloidosisBase SequenceCodonDNAExonsFemaleGenesHumansMaleMolecular Sequence DataMutationNervous System DiseasesPedigreePrealbuminProtein ConformationRestriction MappingCase ReportsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.

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J C Skare, M J Saraiva, I L Alves, I B Skare, A Milunsky, A S Cohen, M Skinner. 1989-11-15. A new mutation causing familial amyloidotic polyneuropathy.. https://doi.org/10.1016/0006-291x(89)91802-0

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