We studied an Italian family with three NB patients, two siblings and one of their cousins carrying the R1192P mutation in the ALK gene (that has been found mutated in a fraction of familial NBs). However, because some individuals harboring mutations in this gene do not develop this tumor, additional genetic alterations appear to be required for NB pathogenesis. In this family, a comparison between somatic and germline DNA copy number changes in the two affected siblings and their relatives by an high resolution array-based Comparative Genomic Hybridization (CGH) technique was performed.
山东省济南市章丘区文博路2号
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