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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm, Johann; Biancalana, Valérie; Dechene, Elizabeth T; Bitoun, Marc; Pierson, Christopher R; Schaefer, Elise; Karasoy, Hatice; Dempsey, Melissa A; Klein, Fabrice; Dondaine, Nicolas; Kretz, Christine; Haumesser, Nicolas; Poirson, Claire; Toussaint, Anne; Greenleaf, Rebecca S; Barger, Melissa A; Mahoney, Lane J; Kang, Peter B; Zanoteli, Edmar; Vissing, John; Witting, Nanna; Echaniz-Laguna, Andoni; Wallgren-Pettersson, Carina; Dowling, James; Merlini, Luciano; Oldfors, Anders; Bomme Ousager, Lilian; Melki, Judith; Krause, Amanda; Jern, Christina; Oliveira, Acary S B; Petit, Florence; Jacquette, Aurélia; Chaussenot, Annabelle; Mowat, David; Leheup, Bruno; Cristofano, Michele; Poza Aldea, Juan José; Michel, Fabrice; Furby, Alain; Llona, Jose E Barcena; Van Coster, Rudy; Bertini, Enrico; Urtizberea, Jon Andoni; Drouin-Garraud, Valérie; Béroud, Christophe; Prudhon, Bernard; Bedford, Melanie; Mathews, Katherine; Erby, Lori A H.
Affiliation
  • Böhm J; Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.
Hum Mutat ; 33(6): 949-59, 2012 Jun.
Article in En | MEDLINE | ID: mdl-22396310
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Structural, Congenital / Dynamin II / Genetic Association Studies / Genes, Dominant / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Structural, Congenital / Dynamin II / Genetic Association Studies / Genes, Dominant / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos