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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Peiwen Xu, Lijuan Wang, Jing Li, Sexin Huang, Ming Gao, Ranran Kang, Jie Li, Hongqiang Xie, Xiaowei Liu, Junhao Yan, Xuan Gao, Yuan Gao
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2023-11-01
Цуврал:	BMC Medical Genomics
Нөхцлүүд:	ADPKD PKD1 WES Karyotype analysis Reciprocal translocations PGT
Онлайн хандалт:	https://doi.org/10.1186/s12920-023-01725-2
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!