Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice

Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determin...

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Detalles Bibliográficos
Autores principales: Árvai, Kristóf, Horváth, Péter, Balla, Bernadett, Tobiás, Bálint, Kató, Karina, Kirschner, Gyöngyi, Klujber, Valéria, Lakatos, Péter, Kósa, János P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4917842/
https://www.ncbi.nlm.nih.gov/pubmed/27335225
http://dx.doi.org/10.1038/srep28417

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