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Two missense mutations in SLC26A4 gene: a molecular and functional study |
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| Authors: | I Ben Rebeh N Yoshimi H Hadj‐Kacem S Yanohco B Hammami M Mnif M Araki A Ghorbel H Ayadi S Masmoudi H Miyazaki |
| Affiliation: | 1. Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Sfax, Tunisie;2. Graduate School of Life and Environmental Sciences, Alliance for Research on North Africa, University of Tsukuba, Tsukuba, Ibaraki, Japan;3. Service d'O.R.L.C.H.U. H.Bourguiba de Sfax, Sfax, Tunisie;4. Laboratoire International Associé: Gènes et Protéines dans les maladies multigéniques, LIA135 |
| Abstract: | |
| Keywords: | founder effect glycosylation goiter missense mutation Pendred syndrome pendrin SLC26A4 |