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Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

5 Mar 2007

Abstract excerpt

BACKGROUND: Commercial MLPA kits (MRC-Holland) are available for detecting imbalance at the subtelomere regions of chromosomes; each kit consists of one probe for each subtelomere. METHODS: For validation of the kits, 208 patients were tested, of which 128 were known to be abnormal, corresponding to 8528 genomic regions overall. Validation samples included those with trisomy 13, 18 and 21, microscopically visible...

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PMID: 17338807
DOI: 10.1186/1471-2350-8-9

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