Preferential mutation of the neurofibrom
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Karen Stephens; Lucille Kayes; Vincent M. Riccardi; Marcia Rising; Virginia P. S
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Article
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1992
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Springer
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English
โ 445 KB
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