In Silico identification of a common mobile element insertion in exon 4 of RP1

Mobile element insertions (MEIs) typically exceed the read lengths of short-read sequencing technologies and are therefore frequently missed. Recently, a founder Alu insertion in exon 4 of RP1 has been detected in Japanese patients with macular dystrophy by PCR and gel electrophoresis. We aimed to d...

Descripción completa

Detalles Bibliográficos
Autores principales: Won, Dongju, Hwang, Joo-Yeon, Shim, Yeeun, Byeon, Suk Ho, Lee, Junwon, Lee, Christopher Seungkyu, Kim, Min, Lim, Hyun Taek, Choi, Jong Rak, Lee, Seung-Tae, Han, Jinu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238996/
https://www.ncbi.nlm.nih.gov/pubmed/34183725
http://dx.doi.org/10.1038/s41598-021-92834-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238996/
https://www.ncbi.nlm.nih.gov/pubmed/34183725
http://dx.doi.org/10.1038/s41598-021-92834-4

Ejemplares similares