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pro vyhledávání: '"Annie Kufardjieva"'
Autor:
Raymonda Varon, Manfred Stuhrmann, Milan Macek, Annie Kufardjieva, Dora Angelicheva, Klaus Magdorf, Albena Jordanova, Alexey Savov, Ulrich Wahn, Vesselin Lalov, Tanya Ivanova, Helmut Ellemunter, Vera Vavrova, Vladimir Ferak, Hana Kayserova, André Reis, Luba Kalaydjieva
Publikováno v:
Human Mutation. 6:219-225
Cystic fibrosis (CF) is caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) that codes for a cAMP-regulated chloride channel. The R347P is a missense mutation located within the first membrane spanning d