High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss-Reference-Cited by-同舟云学术

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

Published:2015-05-13 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Mizutari Kunio,Mutai Hideki,Namba Kazunori,Miyanaga Yuko,Nakano Atsuko,Arimoto Yukiko,Masuda Sawako,Morimoto Noriko,Sakamoto Hirokazu,Kaga Kimitaka,Matsunaga Tatsuo

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1186/s13023-015-0276-z.pdf

Reference37 articles.

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2. Stover T, Diensthuber M. Molecular biology of hearing. GMS Curr Top Otorhinolaryngol Head Neck Surg. 2011;10:Doc06.

3. El-Amraoui A, Petit C. Cadherin defects in inherited human diseases. Prog Mol Biol Transl Sci. 2010;116:361–84.

4. Hilgert N, Smith RJ, Van Camp G. Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med. 2009;9:546–64.

5. Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Muller U, et al. Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature. 2007;449:87–91.

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