Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy.

doi:10.1212/wnl.51.3.708

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Article

Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy.

Neurology - 1 Sept 1998

Planté-Bordeneuve V, Lalu T, Misrahi M, Reilly M M, Adams D, Lacroix C, Said G

Abstract excerpt

OBJECTIVE: To investigate the genotypic-phenotypic variations in a series of patients with familial amyloid polyneuropathy (FAP). BACKGROUND: Progress in molecular genetics has led to the identification of point mutations in the transthyretin (TTR) gene in FAP--a dominantly inherited neuropathy w...

Topics

Adult
Aged
Amyloid Neuropathies
Female
Genotype
Haplotypes
Humans
Male
Middle Aged
Phenotype
Point Mutation
Polymorphism, Genetic

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