Article
From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease.
American journal of human genetics - 1 Jan 1992
Ii S, Sobell J L, Sommer S S
Abstract excerpt
Traditionally, clinical research has sought to determine the molecular basis of clinical signs and symptoms. Increasingly, the traditional process will be reversed, as many structural protein variants are elucidated as a result of powerful PCR-based methods. Herein we describe a variant of transthyretin (TTR) found by direct genomic sequencing and illustrate the utility of PASA (PCR amplification of specific...
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