Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

Human chromosome 15q25 is involved in several disease-associated structural rearrangements, including microdeletions and chromosomal markers with inverted duplications. Using comparative fluorescence in situ hybridization, strand-sequencing, single-molecule, real-time sequencing and Bionano optical...

Descripción completa

Detalles Bibliográficos
Autores principales: Maggiolini, Flavia A. M., Cantsilieris, Stuart, D’Addabbo, Pietro, Manganelli, Michele, Coe, Bradley P., Dumont, Beth L., Sanders, Ashley D., Pang, Andy Wing Chun, Vollger, Mitchell R., Palumbo, Orazio, Palumbo, Pietro, Accadia, Maria, Carella, Massimo, Eichler, Evan E., Antonacci, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436712/
https://www.ncbi.nlm.nih.gov/pubmed/30917130
http://dx.doi.org/10.1371/journal.pgen.1008075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436712/
https://www.ncbi.nlm.nih.gov/pubmed/30917130
http://dx.doi.org/10.1371/journal.pgen.1008075

Ejemplares similares