title: A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.
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.
authors.affiliation: First Department of Internal Medicine, Kumamoto University Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Murakami
authors.forename: S
authors.initials: S
authors.lastname: Maeda
authors.forename: S
authors.initials: S
authors.lastname: Yi
authors.forename: S
authors.initials: S
authors.lastname: Ikegawa
authors.forename: E
authors.initials: E
authors.lastname: Kawashima
authors.forename: S
authors.initials: S
authors.lastname: Onodera
authors.forename: K
authors.initials: K
authors.lastname: Shimada
authors.forename: S
authors.initials: S
authors.lastname: Araki
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011228:Prealbumin / Q000235:genetics*
chemical_list: D009838:Oligodeoxyribonucleotides; D011228:Prealbumin