Salt wasting and deafness resulting from mutations in two chloride channels

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Bibliographische Detailangaben
Veröffentlicht in:	The New England journal of medicine 2004-03, Vol.350 (13), p.1314-1319
Hauptverfasser:	SCHLINGMANN, Karl P, KONRAD, Martin, JECK, Nikola, WALDEGGER, Petra, REINALTER, Stephan C, HOLDER, Martin, SEYBERTH, Hannsjörg W, WALDEGGER, Siegfried
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Anion Transport Proteins - genetics Bartter Syndrome - genetics Biological and medical sciences Chloride Channels - genetics Chromosomes, Human, Pair 1 Deafness - genetics DNA Mutational Analysis Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Gene Deletion General aspects Hearing Loss, Sensorineural - genetics Humans Hypokalemia Infant Kidney Diseases - genetics Male Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Mutation, Missense Non tumoral diseases Oocytes Otorhinolaryngology. Stomatology Point Mutation Xenopus laevis
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