Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred.

doi:10.1007/BF00210764

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Article

Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred.

Human genetics - 1 Jan 2000

Jacobson D R, Rosenthal C J, Buxbaum J N

Abstract excerpt

Mutations in the serum protein transthyretin (TTR) cause amyloidosis involving the peripheral nerves, heart, and other organs. In Ashkenazic Jews, the only TTR variant described to date has been TTR Ile 33. We have studied DNA from another Ashkenazic Jewish kindred with familial amyloidotic polyn...

Topics

Amyloidosis
DNA, Single-Stranded
Humans
Jews
Mutation
Nucleic Acid Conformation
Peripheral Nervous System Diseases
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Prealbumin
Proline

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