期刊
CLINICAL GENETICS
卷 67, 期 1, 页码 31-37出版社
BLACKWELL MUNKSGAARD
DOI: 10.1111/j.1399-0004.2004.00334.x
关键词
connexin 26; deafness; founder effect; hearing loss
Eighteen different sequence changes, including three novel alterations, were detected in GJB2, encoding connexin 26, in 371 Turkish probands with non-syndromic sensorineural hearing loss. Two frequently detected mutations. 35delG and delE120, were shown to have single origins based on the conserved genotypes of two closely linked microsatellite and five single nucleotide polymorphism markers. Carrier frequencies of 15delG and delE120 in Egypt and Turkic populations of the Near East provide insights about the origin of these two mutations.
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