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

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...

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Главные авторы: Ahn, Joo Wook, Mackie Ogilvie, Caroline, Welch, Alysia, Thomas, Helen, Madula, Rajiv, Hills, Alison, Donaghue, Celia, Mann, Kathy
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2007
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1831468/
https://ncbi.nlm.nih.gov/pubmed/17338807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-8-9
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