Associated Papers
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
Ko JM et al.
Pediatric Neurology, 2013
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
Jeong SY et al.
Journal of Korean Medical Science, 2006
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.
Mattocks C et al.
Journal of Medical Genetics, 2004
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
Kluwe L et al.
Human Mutation, 2002
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Messiaen LM et al.
Human Mutation, 2000
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