A new mutation causing familial amyloidotic polyneuropathy |
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Authors: | J C Skare M J Saraiva I L Alves I B Skare A Milunsky A S Cohen M Skinner |
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Institution: | Center for Human Genetics, Boston University School of Medicine, MA. |
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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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