Article
A new transthyretin variant--ATTR Arg104Cys.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 1999
Saraiva M J, Torres M de F, Serra J, Ochoa J
Abstract excerpt
We report the genetic characterization of a transthyretin variant previously detected by mutation scanning employing single strand conformation polymorphism analysis in patients with peripheral neuropathies. A substitution of a thymine for cytosine resulting in the replacement of an arginine with cysteine at position 104 of the polypeptide chain was found both by DNA sequencing and restriction fragment length...
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