title: A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.
abstract: A novel transthyretin (TTR) mutation associated with familial amyloidotic polyneuropathy was detected in a Japanese patient. Single-strand conformation polymorphism analysis and sequence analysis of polymerase chain reaction (PCR)-amplified exons of the patient's TTR gene revealed a point mutation resulting in a substitution of leucine for valine at position 30. As the mutation creates a Cfr13I site, it was confirmed by PCR and restriction analysis. Our finding indicates the importance of position 30 in TTR-derived amyloid fibril formation.
authors.affiliation: First Department of Internal Medicine, Kumamoto University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Murakami
authors.forename: T
authors.initials: T
authors.lastname: Atsumi
authors.forename: S
authors.initials: S
authors.lastname: Maeda
authors.forename: S
authors.initials: S
authors.lastname: Tanase
authors.forename: K
authors.initials: K
authors.lastname: Ishikawa
authors.forename: S
authors.initials: S
authors.lastname: Mita
authors.forename: T
authors.initials: T
authors.lastname: Kumamoto
authors.forename: S
authors.initials: S
authors.lastname: Araki
authors.forename: M
authors.initials: M
authors.lastname: Ando
mesh_terms: D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*; D014633:Valine / Q000235:genetics*
chemical_list: D011228:Prealbumin; D007930:Leucine; D014633:Valine