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pro vyhledávání: '"Annie Papakonstantinopoulou"'
Autor:
Michael A. Curtis, Harshad Navsaria, Daniel Tattersall, Annie Papakonstantinopoulou, Claire A. Scott, Anna C. Thomas, Daniel J. Jagger, Jiehan Chong, Caroline Trolove, Drashnika Patel, Y. K. Stella Man, David P. Kelsell, Edel A. O'Toole
Publikováno v:
Journal of Membrane Biology. 218:29-37
A large proportion of recessive nonsyndromic hearing loss is due to mutations in the GJB2 gene encoding connexin 26 (Cx26), a component of a gap junction. Within different ethnic groups there are specific common recessive mutations, each with a relat