Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Neurodegenerative disorders and leukodystrophies are progressive neurologic conditions that can occur following the disruption of intricately coordinated patterns of gene expression. Exome sequencing has been adopted as an effective diagnostic tool for determining the underlying genetic etiology of...

Descripción completa

Detalles Bibliográficos
Autores principales: Borja, Nicholas, Bivona, Stephanie, Peart, Lé Shon, Johnson, Brittany, Gonzalez, Joanna, Barbouth, Deborah, Moore, Henry, Guo, Shengru, Bademci, Guney, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000935/
https://www.ncbi.nlm.nih.gov/pubmed/35247231
http://dx.doi.org/10.1002/mgg3.1892

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000935/
https://www.ncbi.nlm.nih.gov/pubmed/35247231
http://dx.doi.org/10.1002/mgg3.1892

Ejemplares similares