Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family

Familiarity with the audioprofiles of DFNA traits may lead to successful mutation analysis of the gene involved, even in a small family in which genetic linkage analysis is not an option. Alternatively, the specially developed program AudioGene can be accessed on the Internet to perform automatic audioprofile analysis of a family’s (audiological) phenotype.

from the Annals of Otology. Rhinology, and Laryngology

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Posted on May 19, 2011, in Research. Bookmark the permalink. Leave a comment.

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