Kyle R. Taylor, Adam P. DeLuca, A. Eliot Shearer, Michael S. Hildebrand, E. Ann Black-Ziegelbein, V. Nikhil Anand, Christina M. Sloan, Robert W. Eppsteiner, Todd E. Scheetz, Patrick L. M. Huygen, Richard J. H. Smith, Terry A. Braun and Thomas L. Casavant AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening Human Mutation 34
Article first published online: 19 FEB 2013 | DOI: 10.1002/humu.22268
This article describes an accurate method for the diagnosis of mutations in genes, with pseudogene copies, at the single cell level for preimplantation genetic diagnostic purposes. The method is sensitive enough to detect germline mosaicism in single gametes.
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