A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation

The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary disease that causes late-onset renal cyst development and end-stage renal disease. Preimplantation genetic testing for monogenic disease (PGT-M) has emerged as an effective strategy to prevent pathogenic m...

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Detalles Bibliográficos
Autores principales: Peng, Cuiting, Chen, Han, Ren, Jun, Zhou, Fan, Li, Yutong, Keqie, Yuezhi, Ding, Taoli, Ruan, Jiangxing, Wang, He, Chen, Xinlian, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478289/
https://www.ncbi.nlm.nih.gov/pubmed/37667185
http://dx.doi.org/10.1186/s12864-023-09593-x

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