Article
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.
Genes, chromosomes & cancer - 1 Oct 2006
De Raedt Thomas, Maertens Ophélia, Chmara Magdalena, Brems Hilde, Heyns Ine, Sciot Raf, Majounie Elisa, Upadhyaya Meena, De Schepper Sofie, Speleman Frank, Messiaen Ludwine, Vermeesch Joris Robert, Legius Eric
Abstract excerpt
Neurofibromatosis type I (NF1) is an autosomal dominant familial tumor syndrome characterized by the presence of multiple benign neurofibromas. In 95% of NF1 individuals, a mutation is found in the NF1 gene, and in 5% of the patients, the germline mutation consists of a microdeletion that includes the NF1 gene and several flanking genes. We studied the frequency of loss of heterozygosity (LOH) in the NF1 region...
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