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Detection limit of intragenic deletions with targeted array comparative genomic hybridization
BACKGROUND: Pathogenic mutations range from single nucleotide changes to deletions or duplications that encompass a single exon to several genes. The use of gene-centric high-density array comparative genomic hybridization (aCGH) has revolutionized the detection of intragenic copy number variations....
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235222/ https://www.ncbi.nlm.nih.gov/pubmed/24304607 http://dx.doi.org/10.1186/1471-2156-14-116 |