TY  - GEN
AU  - Motozaki,Yuko
AU  - Sugiyama,Yu
AU  - Ishida,Chiho
AU  - Komai,Kiyonobu
AU  - Matsubara,Shiro
AU  - Yamada,Masahito
TI  - Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study
SN  - 0022-510X
PY  - 2007///1206
KW  - Adult
KW  - Amyloid Neuropathies, Familial
KW  - complications
KW  - Brain
KW  - metabolism
KW  - Carpal Tunnel Syndrome
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Eye Diseases, Hereditary
KW  - Fatal Outcome
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Meninges
KW  - Middle Aged
KW  - Mutation
KW  - Myocardium
KW  - Pedigree
KW  - Peripheral Nerves
KW  - Phenotype
KW  - Prealbumin
KW  - Viscera
KW  - Vitreous Body
KW  - pathology
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.jns.2007.03.021
ER  -