Neurofibromatosis
Research from University of Vienna has provided new data on neurofibromatosis
Published in Genomics and Genetics Weekly, August 3rd, 2007
"Over half of the patients carried novel mutations, and only a quarter carried recurrent minor-lesion mutations at 16 mutational warm spots. The remaining patients carried NF1 microdeletions (7%) and rare recurring mutations. Thirty-six of the mutations (38%) altered pre-mRNA splicing, and fall into five groups: exon skipping resulting from mutations at authentic splice sites (type I), cryptic exon inclusion caused...
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