Article
SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.
The Journal of molecular diagnostics : JMD - 1 Nov 2015
Graham Rondell P, Dina Michelle A, Howe Sarah C, Butz Malinda L, Willkomm Kurt S, Murray David L, Snyder Melissa R, Rumilla Kandelaria M, Halling Kevin C, Highsmith W Edward
Abstract excerpt
Genetic α-1 antitrypsin (AAT) deficiency is characterized by low serum AAT levels and the identification of causal mutations or an abnormal protein. It needs to be distinguished from deficiency because of nongenetic causes, and diagnostic delay may contribute to worse patient outcome. Current routine clinical testing assesses for only the most common mutations. We wanted to determine the proportion of unexplained...
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