Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

BACKGROUND: Bardet‐Biedl syndrome (BBS) is an autosomal recessive pleiotropic disorder of the primary cilia that leads to severe visual loss in the teenage years. Approximately 80% of BBS cases are explained by mutations in one of the 21 identified genes. Documented causative mutation types include...

Descripción completa

Detalles Bibliográficos
Autores principales: Tavares, Erika, Tang, Chen Yu, Vig, Anjali, Li, Shuning, Billingsley, Gail, Sung, Wilson, Vincent, Ajoy, Thiruvahindrapuram, Bhooma, Héon, Elise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393654/
https://www.ncbi.nlm.nih.gov/pubmed/30484961
http://dx.doi.org/10.1002/mgg3.521

Ejemplares similares

Ejemplares similares