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Article

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

8 Jun 2005

Abstract excerpt

BACKGROUND: Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for...

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PMID: 15944227
DOI: 10.1136/jmg.2005.033795

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