Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

OBJECTIVE: Next-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition. METHODS: Sixty-six patients with undiagnosed asymptomatic or paucisymptom...

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Publicat a:Neurol Genet
Autors principals: Rubegni, Anna, Malandrini, Alessandro, Dosi, Claudia, Astrea, Guja, Baldacci, Jacopo, Battisti, Carla, Bertocci, Giulia, Donati, M. Alice, Dotti, M. Teresa, Federico, Antonio, Giannini, Fabio, Grosso, Salvatore, Guerrini, Renzo, Lenzi, Sara, Maioli, Maria A., Melani, Federico, Mercuri, Eugenio, Sacchini, Michele, Salvatore, Simona, Siciliano, Gabriele, Tolomeo, Deborah, Tonin, Paola, Volpi, Nila, Santorelli, Filippo M., Cassandrini, Denise
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6705647/
https://ncbi.nlm.nih.gov/pubmed/31517061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000352
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