Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing

Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing

Significance Sequence variants that create or eliminate splice sites are often clinically classified as variants of unknown significance (VUS) due to imperfect understanding of RNA splice signals and cumbersome functional assays. In autosomal dominant disorders caused by haploinsufficiency, variants...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Kaoru Ito, Parth Patel, Joshua M. Gorham, Barbara McDonough, Steven R. DePalma, Emily E. Adler, Lien Lam, Calum A. MacRae, Syed M. Mohiuddin, Diane Fatkin, Christine E. Seidman, J G Seidman
Format: Artigo
Idioma:anglès
Publicat: 2017
Accés en línia:https://doi.org/10.1073/pnas.1707741114
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Internet

https://doi.org/10.1073/pnas.1707741114

Ítems similars