Amino acid 118 in the deafness causing (DFNA20/26) ACTG1 gene is a mutational hot spot-Reference-Cited by-同舟云学术

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Amino acid 118 in the deafness causing (DFNA20/26) ACTG1 gene is a mutational hot spot

Published:2018-06 Issue: Volume:11 Page:264-269
ISSN:2452-0144
Container-title:Gene Reports
language:en
Short-container-title:Gene Reports

Author:

Wang Li,Yan Denise,Qin Litao,Li Tao,Liu Hongjian,Li Wan,Mittal Rahul,Yong Feng,Chapagain Prem,Liao Shixiu,Liu Xuezhong

Funder

National Institutes of Health

National Institute on Deafness and Other Communication Disorders

National Natural Science Foundation of China

Medical Science and Technology Project of Henan Province

Publisher

Elsevier BV

Subject

Genetics

Reference33 articles.

1. Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families;Baek;Orphanet. J. Rare Dis.,2012

2. Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function;Bryan;J. Biol. Chem.,2006

3. A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval;DeWan;Clin. Genet.,2003

4. Actin in hair cells and hearing loss;Drummond;Hear. Res.,2012

5. Human nonsyndromic sensorineural deafness;Friedman;Annu. Rev. Genomics Hum. Genet.,2003

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Responsiveness of the electrically stimulated cochlear nerve in patients with a missense variant in ACTG1: preliminary results;Frontiers in Audiology and Otology;2023-07-07

2. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

3. Responsiveness of the electrically stimulated cochlear nerve in patients with a missense variant inACTG1: Preliminary Results;2022-10-26

4. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options;Clinical Genetics;2022-09-29

5. DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature;Audiology Research;2021-10-18

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