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Mutation Scanning of the NF2 Gene: An Improved Service Based on Meta-PCR/Sequencing, Dosage Analysis, and Loss of Heterozygosity Analysis

1 Dec 2004

Abstract excerpt

We describe the development and implementation of a neurofibromatosis type 2 (NF2) mutation scanning service based on novel techniques. All 17 exons of the NF2 gene are amplified in four polymerase chain reaction (PCR) reactions, using the meta-PCR technique to link the NF2 exons into chimeric concatamers. The meta-PCR products are then scanned for point mutations by direct sequencing. A four-exon dosage assay is...

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PMID: 15684865
DOI: 10.1089/gte.2004.8.368

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