title: Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing.
authors.affiliation: a Division of Clinical Genetics , Hokkaido University Hospital , Sapporo , Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Shibata
authors.affiliation: a Division of Clinical Genetics , Hokkaido University Hospital , Sapporo , Japan.|b Department of Neurology , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Masaaki
authors.identifier: 0000-0001-6585-3686
authors.initials: M
authors.lastname: Matsushima
authors.affiliation: a Division of Clinical Genetics , Hokkaido University Hospital , Sapporo , Japan.|b Department of Neurology , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Ichiro
authors.identifier: 0000-0002-1734-7997
authors.initials: I
authors.lastname: Yabe
authors.affiliation: c Molecular Genetic Testing Group, Molecular Genetic Analysis Department , Molecular Pathology Esoteric Analysis Center, LSI Medience Corporation , Tokyo , Japan.
authors.forename: Koichiro
authors.initials: K
authors.lastname: Matsuda
authors.affiliation: b Department of Neurology , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Azusa
authors.initials: A
authors.lastname: Nagai
authors.affiliation: b Department of Neurology , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Kano
authors.affiliation: a Division of Clinical Genetics , Hokkaido University Hospital , Sapporo , Japan.
authors.forename: Takahiro
authors.identifier: 0000-0002-5370-7873
authors.initials: T
authors.lastname: Yamada
authors.affiliation: d Department of Medicine (Neurology and Rheumatology) , Shinshu University School of Medicine , Matsumoto , Japan.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Sekijima
authors.affiliation: a Division of Clinical Genetics , Hokkaido University Hospital , Sapporo , Japan.|b Department of Neurology , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Hidenao
authors.initials: H
authors.lastname: Sasaki
mesh_terms: D000368:Aged; D028226:Amyloidosis, Familial / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011228:Prealbumin / Q000235:genetics
chemical_list: D011228:Prealbumin