A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss

Author:

Wasano Koichiro,Mutai Hideki,Obuchi Chie,Masuda Sawako,Matsunaga Tatsuo

Funder

Health and Labor Sciences Research

National Hospital Organization

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference22 articles.

1. KV7 channelopathies;Maljevic;Pflugers Arch.,2010

2. Kv7 (KCNQ) potassium channels that are mutated in human diseases;Brown;J. Physiol.,2008

3. Regions of KCNQ K(+) channels controlling functional expression;Choveau;Front. Physiol.,2012

4. Structural determinants of M-type KCNQ (Kv7) K+ channel assembly;Schwake;J. Neurosci.,2006

5. Structure of a Ca(2+)/CaM: Kv7.4 (KCNQ4) B-helix complex provides insight into M current modulation;Xu;J. Mol. Biol.,2013

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