Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).

Abstract

Two mutant genes coding for two different variants of transthyretin were identified in two independent kindreds with familial amyloidotic polyneuropathy. A single base change from A to G was identified in exon 2 of transthyretin gene in two brothers from the first kindred. This base change led to replacement of glutamate by glycine at position 42 of 127… (More)

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