Successful application of next-generation sequencing for pre-natal diagnosis in a pedigree with chronic granulomatosis disease

The present study describes the successful application of next-generation sequencing (NGS) in the clinical diagnosis, pathogenic gene identification, treatment and pre-natal diagnosis in a pedigree with chronic granulomatosis disease (CGD). A 36-day-old infant, born to non-consanguineous Chinese par...

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Detalles Bibliográficos
Autores principales: Peng, Fang, Zhong, Lili, Zhang, Bing, Zou, Runying, Nie, Shengdan, Tian, Xin, Deng, Shaoyang, He, Xiangling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434260/
https://www.ncbi.nlm.nih.gov/pubmed/30936962
http://dx.doi.org/10.3892/etm.2019.7318

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434260/
https://www.ncbi.nlm.nih.gov/pubmed/30936962
http://dx.doi.org/10.3892/etm.2019.7318

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