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

Abstract excerpt

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-residue molecule. In a patient from the second kindred, T to...

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