Article
Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.
Genetic testing - 1 Jan 2006
Schirinzi Annalisa, Drmanac Snezana, Dallapiccola Bruno, Huang Steve, Scott Kathryn, De Luca Alessandro, Swanson Donald, Drmanac Radoje, Surrey Saul, Fortina Paolo
Abstract excerpt
Neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders, is caused by mutations in the NF1 gene. A variety of methods are currently used in clinical settings to define disease-causing mutations. We describe microarray-based combinatorial sequencing-by-hybridization (cSBH), which overcomes some disadvantages associated with other techniques. Sequence readout of 2 kb was achieved on a...
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