Paternal origin of new mutations in Von Recklinghausen neurofibromatosis
β Scribed by Jadayel, D.; Fain, P.; Upadhyaya, M.; Ponder, M. A.; Huson, S. M.; Carey, J.; Fryer, A.; Mathew, C. G. P.; Barker, D. F.; Ponder, B. A. J.
- Book ID
- 109762688
- Publisher
- Nature Publishing Group
- Year
- 1990
- Tongue
- English
- Weight
- 249 KB
- Volume
- 343
- Category
- Article
- ISSN
- 0028-0836
- DOI
- 10.1038/343558a0
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Von Recklinghausen neurofibromatosis is characterized by a relatively large proportion of apparently nonfamilial cases, presumed spontaneous mutations. This paper analyzes the distribution of paternal and maternal ages for 187 patients with von Recklinghausen disease representing the first definite
An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1 x 10 -4 per gamete per generation. The molecular basis for frequent NFI mutation in unknown; the gene is not deletion prone. We have found that in all ten families examined, the apparent new NF1 mutation occurred