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Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population by Antiñolo Guillermo, Ayuso Carmen, García-Sandoval Blanca, Maseras Miquel, Martínez-Gimeno María, Hernan Imma, Gamundi María, Baiget Montserrat, Carballo Miguel
Published 2006-04-01
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Mutational screening of the <it>USH2A </it>gene in Spanish USH patients reveals 23 novel pathogenic mutations by Diaz-Llopis Manuel, Navarro Rafael, Bernal Sara, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Leon Ana M, Rodrigo Regina, Jaijo Teresa, Aparisi Maria J, Garcia-Garcia Gema, Baiget Montserrat, Ayuso Carmen, Millan Jose M, Aller Elena
Published 2011-10-01
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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy by Juan-Mateu Jonàs, Rodríguez Maria, Nascimento Andrés, Jiménez-Mallebrera Cecilia, González-Quereda Lidia, Rivas Eloy, Paradas Carmen, Madruga Marcos, Sánchez-Ayaso Pedro, Jou Cristina, González-Mera Laura, Munell Francina, Roig-Quilis Manuel, Rabasa Maria, Hernández-Lain Aurelio, Díaz-Manera Jorge, Gallardo Eduard, Pascual Jordi, Verdura Edgard, Colomer Jaume, Baiget Montserrat, Olivé Montse, Gallano Pia
Published 2012-10-01
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