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Design and synthesis of a novel site-directed reducing agent for the disulfide bond involved in the acetylcholine binding site of the AChoR

✍ Scribed by Pascal Kessler; Denis Servent; Christian Hirth


Publisher
Elsevier Science
Year
1994
Tongue
French
Weight
361 KB
Volume
35
Category
Article
ISSN
0040-4039

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A novel DFNA9 mutation in the vWFA2 doma
✍ Valerie A. Street; Jeremy C. Kallman; Nahid G. Robertson; Sharon F. Kuo; Cynthia πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 534 KB

## 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