Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.

Wu, Fiona; Reed, Anita A C; Williams, Sian E; Loh, Nellie Y; Lippiat, Jonathan D; Christie, Paul T; Large, Oliver; Bettinelli, Alberto; Dillon, Michael J; Goldraich, Noemia P; Hoppe, Bernd; Lhotta, Karl; Loirat, Chantal; Malik, Rayaz; Morel, Delphine; Kotanko, Peter; Roussel, Bernard; Rubinger, Dvora; Schrander-Stumpel, Connie; Serdaroglu, Erkin; Nesbit, M Andrew; Ashcroft, Frances; Thakker, Rajesh V

Wu, Fiona; Reed, Anita A C; Williams, Sian E; Loh, Nellie Y; Lippiat, Jonathan D; Christie, Paul T; Large, Oliver; Bettinelli, Alberto; Dillon, Michael J; Goldraich, Noemia P; Hoppe, Bernd; Lhotta, Karl; Loirat, Chantal; Malik, Rayaz; Morel, Delphine; Kotanko, Peter; Roussel, Bernard; Rubinger, Dvora; Schrander-Stumpel, Connie; Serdaroglu, Erkin; Nesbit, M Andrew; Ashcroft, Frances; Thakker, Rajesh V.

Affiliation

Wu F; Nuffield Department of Clinical Medicine, Academic Endocrine Unit, University of Oxford, and Churchill Hospital, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK.

Nephron Physiol ; 112(4): p53-62, 2009.

Article in En | MEDLINE | ID: mdl-19546591

Subject(s)

Chloride Channels/genetics; Cofilin 1/genetics; Kidney Diseases/genetics; Mutation; Amino Acid Sequence; Base Sequence; Calcium/administration & dosage; Calcium/pharmacokinetics; Calcium/urine; Cell Line; Chloride Channels/physiology; Codon, Nonsense; DNA Mutational Analysis; Electrophysiology; Female; Genetic Diseases, X-Linked/genetics; Genetic Diseases, X-Linked/physiopathology; Humans; Kidney Diseases/physiopathology; Male; Mutagenesis, Insertional; Mutation, Missense; Pedigree; Sequence Deletion; Transfection

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Full text: 1 Database: MEDLINE Main subject: Chloride Channels / Cofilin 1 / Kidney Diseases / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Nephron Physiol Journal subject: NEFROLOGIA Year: 2009 Type: Article Affiliation country: United kingdom

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