ONLINE MUTATION REPORT Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

Abstract

N eurofibromatosis type 1 (NF1), formerly known as Von Recklinghausen Neurofibromatosis, is a common genetic disorder affecting approximately 1 in 3000– 5000 people. It is a fully penetrant autosomal dominant disorder. Strict diagnostic criteria that include café au lait spots, neurofibromas, plexiform neurofibromas, freckling in the axillary or inguinal… (More)

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Cite this paper

@inproceedings{Mattocks2004ONLINEMR, title={ONLINE MUTATION REPORT Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain}, author={C. Mattocks and Diana Baralle and P. Tarpey and Charles ffrench-Constant and Mathan Bobrow and J. Whittaker}, year={2004} }