Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns-Reference-Cited by-同舟云学术

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns

Published:2005-02 Issue:2 Volume:50 Page:76-83
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Oguchi Tomohiro,Ohtsuka Akihiro,Hashimoto Shigenari,Oshima Aki,Abe Satoko,Kobayashi Yumiko,Nagai Kyoko,Matsunaga Tatsuo,Iwasaki Satoshi,Nakagawa Takashi,Usami Shin-ichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200514.pdf

Reference30 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. Abe S, Kelley PM, Kimberling WJ, Usami SI (2001) Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A–>G mitochondrial mutation. Am J Med Genet 103:334–338

3. Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz ID (2002) Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss. Clin Genet 61:459–464

4. Bruzzone R, Veronesi V, Gomes D, Bicego M, Duval N, Marlin S, Petit C, D’Andrea P, White TW (2003) Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Lett 533:79–88

5. Choung YH, Moon SK, Park HJ (2002) Functional study of GJB2 in hereditary hearing loss. Laryngoscope 112:1667–1671

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