Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study. [electronic resource]
Producer: 20071206Description: 236-9 p. digitalISSN:- 0022-510X
- Adult
- Amyloid Neuropathies, Familial -- complications
- Brain -- metabolism
- Carpal Tunnel Syndrome -- genetics
- DNA Mutational Analysis
- Eye Diseases, Hereditary -- genetics
- Fatal Outcome
- Female
- Genetic Predisposition to Disease -- genetics
- Genetic Testing
- Genotype
- Humans
- Male
- Meninges -- metabolism
- Middle Aged
- Mutation -- genetics
- Myocardium -- metabolism
- Pedigree
- Peripheral Nerves -- metabolism
- Phenotype
- Prealbumin -- genetics
- Viscera -- metabolism
- Vitreous Body -- pathology
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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