Publications:

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.

Frontiers In Genetics

Neri, Marcella M; Rossi, Rachele R; Trabanelli, Cecilia C; Mauro, Antonio A; Selvatici, Rita R; Falzarano, Maria Sofia MS; Spedicato, Noemi N; Margutti, Alice A; Rimessi, Paola P; Fortunato, Fernanda F; Fabris, Marina M; Gualandi, Francesca F; Comi, Giacomo G; Tedeschi, Silvana S; Seia, Manuela M; Fiorillo, Chiara C; Traverso, Monica M; Bruno, Claudio C; Giardina, Emiliano E; Piemontese, Maria Rosaria MR; Merla, Giuseppe G; Cau, Milena M; Marica, Monica M; Scuderi, Carmela C; Borgione, Eugenia E; Tessa, Alessandra A; Astrea, Guia G; Santorelli, Filippo Maria FM; Merlini, Luciano L; Mora, Marina M; Bernasconi, Pia P; Gibertini, Sara S; Sansone, Valeria V; Mongini, Tiziana T; Berardinelli, Angela A; Pini, Antonella A; Liguori, Rocco R; Filosto, Massimiliano M; Messina, Sonia S; Vita, Gianluca G; Toscano, Antonio A; Vita, Giuseppe G; Pane, Marika M; Servidei, Serenella S; Pegoraro, Elena E; Bello, Luca L; Travaglini, Lorena L; Bertini, Enrico E; D'Amico, Adele A; Ergoli, Manuela M; Politano, Luisa L; Torella, Annalaura A; Nigro, Vincenzo V; Mercuri, Eugenio E; Ferlini, Alessandra A

Publication Date: 2020

Variant appearance in text: DMD: 6614+1G>A

PubMed Link: 32194622

Variant Present in the following documents:

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Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Journal Of Applied Genetics

Anna, Abramowicz A; Monika, Gos G

Publication Date: 2018-08

Variant appearance in text: DMD: 6614+1G>A

PubMed Link: 29680930

Variant Present in the following documents:

• Main text
• 13353_2018_Article_444.pdf

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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

European Journal Of Human Genetics : Ejhg

Mercier, Sandra S; Toutain, Annick A; Toussaint, Aurélie A; Raynaud, Martine M; de Barace, Claire C; Marcorelles, Pascale P; Pasquier, Laurent L; Blayau, Martine M; Espil, Caroline C; Parent, Philippe P; Journel, Hubert H; Lazaro, Leila L; Andoni Urtizberea, Jon J; Moerman, Alexandre A; Faivre, Laurence L; Eymard, Bruno B; Maincent, Kim K; Gherardi, Romain R; Chaigne, Denys D; Ben Yaou, Rabah R; Leturcq, France F; Chelly, Jamel J; Desguerre, Isabelle I

Publication Date: 2013-08

Variant appearance in text: DMD: 6614+1G>A

PubMed Link: 23299919

Variant Present in the following documents:

• Main text

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