title: A new mutation causing familial amyloidotic polyneuropathy.
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.
authors.affiliation: Center for Human Genetics, Boston University School of Medicine, MA.
authors.forename: J C
authors.initials: JC
authors.lastname: Skare
authors.forename: M J
authors.initials: MJ
authors.lastname: Saraiva
authors.forename: I L
authors.initials: IL
authors.lastname: Alves
authors.forename: I B
authors.initials: IB
authors.lastname: Skare
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
authors.forename: A S
authors.initials: AS
authors.lastname: Cohen
authors.forename: M
authors.initials: M
authors.lastname: Skinner
mesh_terms: D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000097:blood / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics; D005091:Exons; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009422:Nervous System Diseases / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*; D011487:Protein Conformation; D015183:Restriction Mapping
chemical_list: D003062:Codon; D011228:Prealbumin; D004247:DNA