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  • Title: Familial amyloidotic polyneuropathy: report of patients heterozygous for the transthyretin Gly42 gene.
    Author: Murakami T, Yi S, Yamamoto K, Maruyama S, Araki S.
    Journal: Ann Neurol; 1992 Mar; 31(3):340-2. PubMed ID: 1637142.
    Abstract:
    We studied 2 patients from a Japanese family with familial amyloidotic polyneuropathy (FAP). Their clinical features are similar to type 1 FAP, and the proband's rectal tissue contained amyloid that stained with antihuman transthyretin (TTR) antiserum. Direct DNA sequencing of the proband's TTR gene revealed a guanine-for-adenine substitution in the second base of codon 42, producing a glycine for glutamate substitution in the plasma protein.
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