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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-...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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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 |