SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis-Reference-Cited by-同舟云学术

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SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

Published:2009-03-13 Issue:5 Volume:54 Page:266-270
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Anwar Saima,Riazuddin Saima,Ahmed Zubair M,Tasneem Saba,Ateeq-ul-Jaleel ,Khan Shahid Y,Griffith Andrew J,Friedman Thomas B,Riazuddin Sheikh

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200921.pdf

Reference36 articles.

1. Phelps, P. D., Coffey, R. A., Trembath, R. C., Luxon, L. M., Grossman, A. B., Britton, K. E. et al. Radiological malformations of the ear in Pendred syndrome. Clin. Radiol. 53, 268–273 (1998).

2. Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M. et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat. Genet. 17, 411–422 (1997).

3. Friedman, T. B. & Griffith, A. J. Human nonsyndromic sensorineural deafness. Annu. Rev. Genomics. Hum. Genet. 4, 341–402 (2003).

4. Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D. et al. A mutation in PDS causes non-syndromic recessive deafness. Nat. Genet. 18, 215–217 (1998).

5. Madeo, A. C., Pryor, S. P., Brewer, C., Zalewski, C., King, K., Butman, J. A. et al. Pendred Syndrome. Semin. Hear. 27, 160–170 (2006).

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