Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum

Next-generation sequencing (NGS) is a useful molecular diagnostic tool for genetic diseases. However, due to the presence of highly homologous pseudogenes, it is challenging to use short-read NGS for analyzing mutations of the Shwachman-Bodian-Diamond syndrome (SBDS) gene. The SBDS mutation spectrum...

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Detalles Bibliográficos
Autores principales: Wu, Dong, Zhang, Li, Qiang, Yuzhen, Wang, Kaiyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747038/
https://www.ncbi.nlm.nih.gov/pubmed/36512530
http://dx.doi.org/10.1371/journal.pone.0269029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747038/
https://www.ncbi.nlm.nih.gov/pubmed/36512530
http://dx.doi.org/10.1371/journal.pone.0269029

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