OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic diseases, and it is usually performed to confirm the clinical diagnosis in ADPKD. Reci...

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Detalles Bibliográficos
Autores principales: Xu, Peiwen, Wang, Lijuan, Li, Jing, Huang, Sexin, Gao, Ming, Kang, Ranran, Li, Jie, Xie, Hongqiang, Liu, Xiaowei, Yan, Junhao, Gao, Xuan, Gao, Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642002/
https://www.ncbi.nlm.nih.gov/pubmed/37953234
http://dx.doi.org/10.1186/s12920-023-01725-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642002/
https://www.ncbi.nlm.nih.gov/pubmed/37953234
http://dx.doi.org/10.1186/s12920-023-01725-2

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