Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.

doi:10.1111/j.1399-0004.1992.tb03635.x

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Article

Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.

Clinical genetics - 1 Feb 1992

Jones L A, Skare J C, Cohen A S, Harding J A, Milunsky A, Skinner M

Abstract excerpt

Familial amyloidotic polyneuropathy (FAP) is a dominantly inherited form of amyloidosis usually associated with an abnormal transthyretin (TTR), previously known as prealbumin. Several disease-related variants of the protein, each with a different amino acid substitution and correlating DNA point...

Topics

Adult
Alanine
Amyloid
Amyloidosis
Base Sequence
DNA
Female
Germany
Humans
Male
Molecular Sequence Data
Mutation
Nervous System Diseases
Pedigree
Polymerase Chain Reaction
Prealbumin
Valine

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