Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.

CONCLUSIONS: The phenotype associated with the I109N COCH mutation is largely similar to that associated with the I109T, P51S, G87W, and G88E mutation carriers. However, subtle differences seem to exist in terms of age of onset and rate of progression.

from the Annals of Otology. Rhinology, and Laryngology

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Posted on July 22, 2011, in Research. Bookmark the permalink. Leave a comment.

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