Cargando…
Distinct sequence features underlie microdeletions and gross deletions in the human genome
Microdeletions and gross deletions are important causes (~20%) of human inherited disease and their genomic locations are strongly influenced by the local DNA sequence environment. This notwithstanding, no study has systematically examined their underlying generative mechanisms. Here, we obtained 42...
Autores principales: | Qi, Mengling, Stenson, Peter D., Ball, Edward V., Tainer, John A., Bacolla, Albino, Kehrer‐Sawatzki, Hildegard, Cooper, David N., Zhao, Huiying |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069542/ https://www.ncbi.nlm.nih.gov/pubmed/34918412 http://dx.doi.org/10.1002/humu.24314 |
Ejemplares similares
-
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
por: Kehrer-Sawatzki, Hildegard, et al.
Publicado: (2021) -
Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions
por: Kehrer-Sawatzki, Hildegard, et al.
Publicado: (2021) -
Clinical characterization of children and adolescents with NF1 microdeletions
por: Kehrer-Sawatzki, Hildegard, et al.
Publicado: (2020) -
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions
por: Mußotter, Tanja, et al.
Publicado: (2012) -
Emerging genotype–phenotype relationships
in patients with large NF1 deletions
por: Kehrer-Sawatzki, Hildegard, et al.
Publicado: (2017)