A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment-Reference-Cited by-同舟云学术

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

Published:2006-06-14 Issue:10 Volume:14 Page:1097-1105
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Rendtorff Nanna D,Zhu Mei,Fagerheim Toril,Antal Torben L,Jones MaryPat,Teslovich Tanya M,Gillanders Elizabeth M,Barmada Michael,Teig Erik,Trent Jeffrey M,Friderici Karen H,Stephan Dietrich A,Tranebjærg Lisbeth

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201670.pdf

Reference29 articles.

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2. Van Camp G, Smith R : Hereditary hearing loss homepage http://dnalab-www.uia.ac.be/dnalab/hhh/ (August, 2005).

3. Steel KP, Kros CJ : A genetic approach to understanding auditory function. Nat Genet 2001; 27: 143–149.

4. Petit C, Levilliers J, Hardelin J-P : Molecular genetics of hearing loss. Ann Rev Genet 2001; 35: 589–646.

5. Bitner-Glindzicz M : Hereditary deafness and phenotyping in humans. Br Med Bull 2002; 63: 73–94.

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