Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?-Reference-Cited by-同舟云学术

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Published:2010-03-19 Issue:5 Volume:55 Page:265-269
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Kokotas Haris,Grigoriadou Maria,Korres George S,Ferekidou Elisabeth,Giannoulia-Karantana Aglaia,Kandiloros Dimitrios,Korres Stavros,Petersen Michael B

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201023.pdf

Reference50 articles.

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3. Jacobs, H. T., Hutchin, T. P., Käppi, T., Gillies, G., Minkkinen, K., Walker, J. et al. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur. J. Hum. Genet. 13, 26–33 (2005).

4. Giles, R. E., Blanc, H., Cann, H. M. & Wallace, D. C. Maternal inheritance of human mitochondrial DNA. Proc. Natl Acad. Sci. USA. 77, 6715–6719 (1980).

5. Dimauro, S. & Davidzon, G. Mitochondrial DNA and disease. Ann. Med. 37, 222–232 (2005).

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