A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain-Reference-Cited by-同舟云学术

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

Published:2012-05-19 Issue:11 Volume:90 Page:1321-1331
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Cho Hyun-Ju,Park Hong-Joon,Trexler Maria,Venselaar Hanka,Lee Kyu-Yup,Robertson Nahid G.,Baek Jeong-In,Kang Beom Sik,Morton Cynthia C.,Vriend Gert,Patthy László,Kim Un-Kyung

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00109-012-0911-2.pdf

Reference29 articles.

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2. Robertson NG, Skvorak AB, Yin Y, Weremowicz S, Johnson KR, Kovatch KA, Battey JF, Bieber FR, Morton CC (1997) Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics 46:345–354

3. Trexler M, Banyai L, Patthy L (2000) The LCCL module. Eur J Biochem 267:5751–5757

4. Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jensen M, Kimberling WJ, Stephan D, Huygen PL, Smith RJ, Bahlo M (2010) A novel mutation in COCH-implications for genotype–phenotype correlations in DFNA9 hearing loss. Laryngoscope 120:2489–2493

5. Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML et al (2009) Mutation in the COCH gene is associated with superior semicircular canal dehiscence. Am J Med Genet A 149A:280–285

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