Article
Phenotypic and molecular characteristics of CF patients carrying the I1234V mutation.
Respiratory medicine - 1 Jan 2000
El Bar Aluma Bat, Sarouk Ifat, Senderowitz Hanoch, Cohen-Cymberknoh Malena, Khazanov Netaly, Dagan Adi, Bezalel Yael, Ashkenazi Moshe, Keler Shlomit, Efrati Ori
Abstract excerpt
BACKGROUND: The Mutation I1234V is a CF causing mutation; however the mechanisms leading to loss of function are not fully understood. In this study, we aimed to characterize phenotypically individuals with the I1234V variant, and to gain a structural point of view of the mutant CFTR using computational studies. METHODS: We conducted a retrospective descriptive study, reviewing the clinical records of 9 Israeli...
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