Identification and characterization of neurofibromatosis type 1 (NF1) gene mutations
Neurofibromatosis type 1 (NF1) afflicts 1 in 3,000 individuals and is characterized with variable clinical presentations. The NF1 gene spans 350 kb on chromosome 17q11.2 with 60 exons. The gene exhibits high mutation rate of 1 × 10<sup>4</sup>/gamete/generation and approximately 50% are...
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| Language: | English |
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Université de Sherbrooke
2000
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| Online Access: | http://savoirs.usherbrooke.ca/handle/11143/4137 |