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

Abstract 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 ADP...

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Principais autores: Peiwen Xu, Lijuan Wang, Jing Li, Sexin Huang, Ming Gao, Ranran Kang, Jie Li, Hongqiang Xie, Xiaowei Liu, Junhao Yan, Xuan Gao, Yuan Gao
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2023-11-01
coleção:BMC Medical Genomics
Assuntos:
ADPKD
PKD1
WES
Karyotype analysis
Reciprocal translocations
PGT
Acesso em linha:https://doi.org/10.1186/s12920-023-01725-2
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