GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation-Reference-Cited by-同舟云学术

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GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

Published:2003-01-31 Issue:4 Volume:112 Page:329-333
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ohtsuka Akihiro,Yuge Isamu,Kimura Shinobu,Namba Atsushi,Abe Satoko,Van Laer Lut,Van Camp Guy,Usami Shin-ichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0889-x.pdf

Reference18 articles.

1. Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ (2000) Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 37:41–43

2. Antonarakis SE (1998) Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1–3

3. Brobby GW, Muller-Myhsok B, Horstmann RD (1998) Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 338:548–550

4. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6:2163–2172

5. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C, et al (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173–2177

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2. The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia);Genes;2023-04-28

3. Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment;Genes;2023-02-03

4. Cochlear Implantation: The Volumetric Measurement of Vestibular Aqueduct and Gusher Prediction;Journal of Personalized Medicine;2023-01-19

5. The role of molecular-biological characteristics of the organism in the development of professional sensorineural hearing loss;Russian Journal of Occupational Health and Industrial Ecology;2022-06-25

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