Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era

Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate detection methods. In this report, on the example of the diagnostic odyssey of...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Thorac Dis
Autors principals: Benke, Kálmán, Ágg, Bence, Meienberg, Janine, Kopps, Anna M., Fattorini, Nathalie, Stengl, Roland, Daradics, Noémi, Pólos, Miklós, Bors, András, Radovits, Tamás, Merkely, Béla, De Backer, Julie, Szabolcs, Zoltán, Mátyás, Gábor
Format: Artigo
Idioma:Inglês
Publicat: AME Publishing Company 2018
Matèries:
Short Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5949468/
https://ncbi.nlm.nih.gov/pubmed/29850152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/jtd.2018.04.40
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars