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Mutation of a Strictly Conserved, Active-Site Residue Alters Substrate Specificity and Cofactor Biogenesis in a Copper Amine Oxidase †

✍ Scribed by Hevel, Joan M.; Mills, Stephen A.; Klinman, Judith P.


Book ID
126254626
Publisher
American Chemical Society
Year
1999
Tongue
English
Weight
151 KB
Volume
38
Category
Article
ISSN
0006-2960

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## Abstract Mutations within the __COCH__ gene (encoding the cochlin protein) lead to auditory and vestibular impairment in the __DFNA9__ disorder. In this study, we describe the genetic mapping of progressive autosomal dominant sensorineural hearing loss first affecting high‐frequency auditory thr