Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family
Author:
Publisher
Elsevier BV
Subject
Genetics,Molecular Biology
Reference15 articles.
1. Hereditary deafness and phenotyping in humans;Bitner-Glindzicz;Br. Med. Bull.,2002
2. Effects of human deafness γ-actin mutations (DFNA20/26) on actin function;Bryan;J. Biol. Chem.,2006
3. The structure of the cuticular plate, an in vivo actin gel;DeRosier;J. Cell Biol.,1989
4. Localization of a calcium sensitive binding site for gelsolin on actin subdomain I: Implication for severing process;Feinberg;Biochem. Biophys. Res. Commun.,1997
5. Interactions between actin filaments and between actin filaments and membranes in quick-frozen and deeply etched hair cells of the chick ear;Hirokawa;J. Cell Biol.,1982
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