Article
The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform.
The Journal of molecular diagnostics : JMD - 1 Jul 2015
Deeb Kristin K, Metcalf James D, Sesock Kaitlin M, Shen Junqing, Wensel Christine A, Rippel Larisa I, Smith Michelle, Chapman Mark S, Zhang Shulin
Abstract excerpt
Cystic fibrosis (CF) is one of the most common recessive conditions among whites, with an estimated carrier frequency of 1 in 25 in the United States. Population-based CF carrier screening was implemented in the United States in 2001. The number of mutations screened by each laboratory may vary; however, the 23 most common CF mutations recommended for screening by the American College of Medical Genetics and...
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