Targeted Next Generation Sequencing in patients with Myotonia Congenita

Author:

Ferradini Valentina,Cassone MarcoORCID,Nuovo Sara,Bagni Ilaria,D'Apice Maria Rosaria,Botta Annalisa,Novelli Giuseppe,Sangiuolo Federica

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference44 articles.

1. Muscle pathology of myotonia congenital;Crews;J. Neurol. Sci.,1976

2. Myotonia Congenita. GeneReviews [Internet]. 2005 [Updated 2015 Aug 6];Dunø,1993

3. The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins;Gentzsch;J. Biol. Chem.,2003

4. CLC chloride channels in Caenorhabditis elegans;Schriever;J. Biol. Chem.,1999

5. A decade of CLC chloride channels: structure, mechanism, and many unsettled questions;Maduke;Annu. Rev. Biophys. Biomol. Struct.,2000

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