Article
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
Journal of medical genetics - 1 Apr 2003
Park H-J, Shaukat S, Liu X-Z, Hahn S H, Naz S, Ghosh M, Kim H-N, Moon S-K, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami S-I, Nance W E, Wilcox E R, Riazuddin S, Griffith A J
Abstract excerpt
Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and non-syndromic deafness in western populations. Although south and east Asia contain nearly one half of the global population, the origins and frequencies of SLC26A4 mutations in these regions are unknown. We PCR amplified and sequenced seven exons of SLC26A4 to detect selected mutations in 274 deaf probands from Korea, China, and...
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