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Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing

BACKGROUND: Ring chromosomes are one category of structurally abnormal chromosomes that can lead to severe growth retardation and other clinical defects. Traditionally, their diagnosis and characterization has largely relied on conventional cytogenetics and fluorescence in situ hybridization, array-...

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Detalles Bibliográficos
Autores principales: Ji, Xiuqing, Liang, Dong, Sun, Ruihong, Liu, Cuiyun, Ma, Dingyuan, Wang, Yan, Hu, Ping, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557216/
https://www.ncbi.nlm.nih.gov/pubmed/26224010
http://dx.doi.org/10.1186/s12881-015-0206-x