Cargando…
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants
Differential distribution of genetic variants’ frequency among human populations is caused by the genetic drift in isolated populations, historical migrations, and demography. Some of these variants are identical by descent and represent founder mutations, which — if pathogenic in nature — lead to t...
Autores principales: | Jankowski, Maciej, Daca-Roszak, Patrycja, Obracht-Prondzyński, Cezary, Płoski, Rafał, Lipska-Ziętkiewicz, Beata S., Ziętkiewicz, Ewa |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9637066/ https://www.ncbi.nlm.nih.gov/pubmed/35971028 http://dx.doi.org/10.1007/s13353-022-00713-z |
Ejemplares similares
-
Transcriptome variation in human populations and its potential application in forensics
por: Daca-Roszak, P., et al.
Publicado: (2019) -
Current genetic methodologies in the identification of disaster victims and in forensic analysis
por: Ziętkiewicz, Ewa, et al.
Publicado: (2011) -
Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant
por: Paprocka, Justyna, et al.
Publicado: (2021) -
Discrimination between human populations using a small number of differentially methylated CpG sites: a preliminary study using lymphoblastoid cell lines and peripheral blood samples of European and Chinese origin
por: Daca-Roszak, Patrycja, et al.
Publicado: (2020) -
In vitro culturing of ciliary respiratory cells—a model for studies of genetic diseases
por: Bukowy, Zuzanna, et al.
Publicado: (2010)