Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation

Background: This study aimed to perform preimplantation genetic testing (PGT) for a female Coffin-Lowry Syndrome (CLS) patient with a de novo mutation (DNM) in RPS6KA3. It was challenging to establish the haplotype in this family because of the lack of information from affected family members. Hence...

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Detalles Bibliográficos
Autores principales: Wen, Xiaojun, Du, Jing, Li, Zhiming, Liu, Nengqing, Huo, Junye, Li, Jieliang, Ke, Wanna, Wu, Jiaqi, Fang, Xiaowu, Lin, Xiufeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10538565/
https://www.ncbi.nlm.nih.gov/pubmed/37779904
http://dx.doi.org/10.3389/fgene.2023.1169868

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10538565/
https://www.ncbi.nlm.nih.gov/pubmed/37779904
http://dx.doi.org/10.3389/fgene.2023.1169868

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