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GJB2 Mutations in Non Syndromic Hearing Loss in the Republic of Macedonia Cover

GJB2 Mutations in Non Syndromic Hearing Loss in the Republic of Macedonia

Open Access
|Feb 2010

References

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  3. Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage ( http://webhost.ua.ac.be/hhh/
  4. Zelante I, Gasparini P, Estivill X, Melchionda S, D'Arguma L, Govea N, Mila M, Monica MDS, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6(9): 1605-1609.10.1093/hmg/6.9.1605
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  6. Kelley PM, Abe S, Askew JW, Smith SD, Usami S, Kimberling WJ. Human connexin 30 (GJB6), a candidate gene for non-syndromic hearing loss: Molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Genomics 1999; 62(2): 172-176.10.1006/geno.1999.6002
  7. del Castillio I, Villamar M, Moreno-Pelayo MA, del Catillio FJ, Alvarez A, Telleria D, Menendez I, Moreno F. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002; 346(4): 243-249.10.1056/NEJMoa012052
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  9. Storm K, Willocx S, Flothmann K, van Camp G. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum Mutat 1999; 14(3): 263-266.10.1002/(SICI)1098-1004(1999)14:3<;263::AID-HUMU10>3.0.CO;2-X
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  11. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensory-neural deafness. Nature 1997; 387(6628): 80-83.10.1038/387080a0
  12. Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 2003; 22(4): 549-556.
  13. Alvarez A, del Castillio I, Villamar M, Aguirre LA, Gonzalez-Neira A, Lopez-Nevot A, Moreno-Pelayo MA, Moreno F. High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recesive non-syndromic hearing loss. Am J Med Genet 2005; 137A(3): 255-258.10.1002/ajmg.a.30884
Language: English
Page range: 11 - 16
Published on: Feb 19, 2010
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2010 E Stefanovska, A Momirovska, M Cakar, G Efremov, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 12 (2009): Issue 2 (December 2009)