De novo mutations, genetic mosaicism and human disease

Mosaicism—the existence of genetically distinct populations of cells in a particular organism—is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations, epigenetic alterations of DNA, and chromosomal abnormalities. Neurodevelopmental or neuropsychiatric diseases, includ...

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Detalles Bibliográficos
Autores principales: Mohiuddin, Mohiuddin, Kooy, R. Frank, Pearson, Christopher E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550265/
https://www.ncbi.nlm.nih.gov/pubmed/36226191
http://dx.doi.org/10.3389/fgene.2022.983668

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550265/
https://www.ncbi.nlm.nih.gov/pubmed/36226191
http://dx.doi.org/10.3389/fgene.2022.983668

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