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1-3 of 3
Keywords: Functional test
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Journal Articles
Subject Area:
Further Areas
Silvia Dossena, Charity Nofziger, Grazia Tamma, Emanuele Bernardinelli, Simone Vanoni, Christoph Nowak, Elisabeth Grabmayer, Sonja Kössler, Susanne Stephan, Wolfgang Patsch, Markus Paulmichl
Journal:
Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2011) 28 (3): 451–466.
Published Online: 18 November 2011
... exert a role in pH homeostasis and regulation of blood pressure. Mutations of the pendrin gene can lead to syndromic and non-syndromic hearing loss with EVA (enlarged vestibular aqueduct). Functional tests of mutated pendrin allelic variants found in patients with Pendred syndrome or non-syndromic EVA...
Journal Articles
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Further Areas
Silvia Dossena, Charity Nofziger, Zippora Brownstein, Moien Kanaan, Karen B. Avraham, Markus Paulmichl
Journal:
Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2011) 28 (3): 477–484.
Published Online: 18 November 2011
... of Medicine, Tel Aviv University, Tel Aviv, 3Department of Life Sciences, Bethlehem University, Bethlehem Key Words Pendrin Inherited hearing loss Functional test Ion transport Pendred syndrome EVA SLC26A4 Abstract Background: Pendrin is a transport protein exchanging chloride for other anions...
Journal Articles
Subject Area:
Further Areas
Journal:
Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2011) 28 (3): 377–384.
Published Online: 16 November 2011
.... Pendrin Inherited hearing loss Functional test Ion transport Pendred syndrome EVA SLC26A4 Cellular Physiology and Biochemistry Review Cell Physiol Biochem 2011;28:377-384 Accepted: October 10, 2011 The ESF Meeting on The Proteomics, Epigenetics and Pharmacogenetics of Pendrin Silvia Dossena1...
