A novel 355–357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s12041-009-0054-6.pdf
Reference20 articles.
1. Abe S., Usami S., Shinkawa H., Kelley P. M. and Kimberling W. J. 2000 Prevalent connexin 26 gene (GJB2) mutations in Japanese. J. Med. Genet. 37, 41–43.
2. Alvarez A., del Castillo I., Villamar M., Aguirre L. A., Gonzalez-Neira A., Lopez-Nevot A. et al. 2005 High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive nonsyndromic hearing loss. Am. J. Med. Genet. Suppl. A. 137, 255–258.
3. Ballana E., Ventayol M., Rabionet R., Gasparini P. and Estivill X. 2001 Connexins and deafness homepage. URL: http//www.iro. es/deafness/ .
4. Dahl E., Manthey D., Chen Y., Schwarz H. J., Chang Y. S., Lalley P. A. et al. 1996 Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin. J. Biol. Chem. 271, 17903–17910.
5. Esmaeili M., Bonyadi M. and Nejadkazem M. 2007 Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. Int. J. Pediatr. Otorhinolaryngol. 71, 869–873.
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