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The Neurofibromatosis Type 1 Gene

✍ Scribed by Viskochil, D; White, R; Cawthon, R

Book ID
125492088
Publisher
Annual Reviews
Year
1993
Tongue
English
Weight
874 KB
Volume
16
Category
Article
ISSN
0147-006X

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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