Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation-Reference-Cited by-同舟云学术

Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation

Published:2012-10-17 Issue:2 Volume:34 Page:309-316
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Choi Byung Yoon,Kim Do-Hwan¹,Chung Taesu²,Chang Mi¹,Kim Eun-Hye¹,Kim Ah Reum³,Seok Jungirl³,Chang Sun O³,Bok Jinwoong⁴,Kim Dongsup²,Oh Seung-Ha³,Park Woong-Yang¹

Affiliation:

1. Biomedical Sciences; Seoul National University College of Medicine; Seoul; Republic of Korea

2. Department of Bio and Brain Engineering,; Korea Advanced Institute of Science and Technology; Daejeon; Republic of Korea

3. Departments of Otolaryngology

4. Department of Anatomy; Yonsei University College of Medicine; Seoul; Republic of Korea

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22232/fullpdf

Reference23 articles.

1. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3;Bitner-Glindzicz;Hum Mol Genet,1995

2. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK;Brunner;Hum Genet,1988

3. Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV;Datta;Proc Natl Acad Sci USA,2009

4. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4;de Kok;Science,1995

5. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4;de Kok;Hum Mol Genet,1996

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