Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan-Reference-Cited by-同舟云学术

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Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan

Published:2002-07-16 Issue:8 Volume:10 Page:495-498
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Wang Yi-Chun,Kung Chiu-Yun,Su Mao-Chang,Su Ching-Chyuan,Hsu Hsiu-Mei,Tsai Chin-Chu,Lin Chyi-Chyang,Li Shuan-Yow

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200838.pdf

Reference16 articles.

1. Morton NE . Genetic epidemiology of hearing impairment Ann NY Acad Sci 1991 630: 16–31

2. Zelante L, Gasparini P, Estivill X et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans Hum Mol Genet 1997 6: 1605–1609

3. Cohn ES, Kelley PM . Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss Am J Med Genet 1999 89: 130–136

4. Kudo T, Ikeda K, Kure S et al. Novel Mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population Am J Med Genet 2000 90: 141–145

5. Salt AN, Melichar I, Thalmann R . Mechanisms of endocochlear potential generation by stria vascularis Laryngoscope 1987 97: 984–991

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2. 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

3. Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry;The Journal of International Advanced Otology;2021-12-22

4. GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran;Journal of Clinical Laboratory Analysis;2021-09-28

5. The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model;Cells;2020-05-22

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