Article
Identification of transthyretin variants by sequential proteomic and genomic analysis.
Clinical chemistry - 1 Sept 2004
Bergen H Robert, Zeldenrust Steven R, Butz Malinda L, Snow Denise S, Dyck Peter J, Dyck P James B, Klein Christopher J, O'Brien John F, Thibodeau Stephen N, Muddiman David C
Abstract excerpt
BACKGROUND: Transthyretin-associated hereditary amyloidosis (ATTR) is an inherited disease in which variants in the primary structure of transthyretin (TTR; prealbumin) lead to the extracellular polymerization of insoluble protein fibrils, causing organ failure and ultimately death when major organs are involved. We have developed an integrated approach to molecular diagnosis with initial analysis of intact...
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